Materiały źródłowe

• #1 Hereditary Spastic Paraplegia: What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia is a genetic condition that causes weakness and muscle tightness in your legs. […] Treatment options, like medications and physical therapy, are available to help you manage symptoms as they arise. […] There isnt a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include: […] Medications (muscle relaxants, botulinum toxin injections, baclofen). […] Physical therapy. […] Occupational therapy. […] Medical shoe inserts (orthotics). […] Mobility devices, like a cane, crutches, splints or a wheelchair. […] Your provider may have other treatment recommendations based on your symptoms.

• #2 Hereditary Spastic Paraplegia | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/hereditary-spastic-paraplegia

  Currently, no treatments can prevent, slow, or reverse HSP. However, treatments are available to help manage symptoms. For example, muscle relaxers may help reduce stiffness in the legs. Some people benefit from surgery to loosen tight muscles. Assistive devices like braces, walkers, or wheelchairs can also improve mobility. Regular physical therapy can help people with HSP maintain muscle strength and flexibility. […] The outlook for people with HSP varies. Some people experience severe disability, while others have only mild symptoms. Most people with HSP have a normal life expectancy.

• #3 Hereditary Spastic Paraplegia – Brain, Spinal Cord, and Nerve Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/spinal-cord-disorders/hereditary-spastic-paraplegia

  Treatment includes physical therapy, exercise, and medications to reduce spasticity. […] Treatment of all forms of hereditary spastic paraplegia focuses on relieving symptoms. […] Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms. […] A muscle relaxant such as baclofen or tizanidine is given to reduce spasticity. Alternatively, botulinum toxin (a bacterial toxin used to paralyze muscles or to treat wrinkles), clonazepam, dantrolene, diazepam, or tizanidine may be used. Anticholinergic medications, such as oxybutynin, may be used to treat bladder spasticity. […] Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.

• #4 Hereditary Spastic Paraplegia – Neurologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/neurologic-disorders/spinal-cord-disorders/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. […] Treatment is symptomatic, including medications to relieve spasticity. […] Treatment for all forms of hereditary spastic paraplegia is symptomatic. Baclofen or tizanidine is given for spasticity. Alternatives include diazepam, clonazepam, dantrolene, and botulinum toxin (botulinum toxin type A or botulinum toxin type B). Anticholinergic agents, such as oxybutynin, may be used for bladder spasticity. […] Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent spasms. Some patients benefit from using splints, a cane, or crutches. […] Treat symptoms (eg, baclofen or tizanidine for spasticity, physical therapy).

• #5 Hereditary spastic paraplegia – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia

  No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. […] Therapeutics offered to HSP patients include: Baclofen a voluntary muscle relaxant to relax muscles and reduce tone. This can be administered orally or intrathecally. (Studies in HSP) […] Tizanidine to treat nocturnal or intermittent spasms (studies available) […] Diazepam and clonazepam to decrease intensity of spasms […] Oxybutynin chloride an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems […] Tolterodine tartrate an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems

• #6 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  Antispasticity medications can be useful. However, one of the drawbacks of using these agents is that some patients find that the stiffness of spasticity helps them to overcome the muscle weakness that occurs in HSP. When patients are medicated to reduce stiffness, walking may become more difficult. Adverse effects can also be a problem. […] If the patient does well with the medications, however, discomfort associated with spasticity can generally be reduced, mobility can be improved, and the effectiveness of PT can be enhanced. Patients in relatively early stages of the illness have achieved symptomatic improvement with oral dantrolene, as well as with oral and intrathecal baclofen. […] Baclofen may induce the hyperpolarization of afferent terminals and inhibit monosynaptic and polysynaptic reflexes at the spinal level. […] Tizanidine is a centrally acting muscle relaxant that is metabolized in the liver and excreted in urine and feces. A single oral dose of 8 mg reduces muscle tone in patients with spasticity for several hours. Blood levels and the spasmolytic effect are linearly correlated. […] Dantrolene sodium stimulates muscle relaxation by modulating skeletal muscle contractions at the site beyond the myoneural junction and acting directly on the muscle itself. Most patients respond to 400 mg/day or less. […] Botulinum toxin binds to receptor sites on motor nerve terminals and inhibits the release of acetylcholine, which in turn inhibits the transmission of impulses in neuromuscular tissue. This agent is most useful for treating spasticity in the gastrocnemius and soleus muscles; it is less effective in larger muscles (eg, quadriceps). Reexamine patients 7-14 days after the initial dose to assess for their response. Treatment may be repeated every 3-4 months.

• #7 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  Antispasticity medications can be useful. However, one of the drawbacks of using these agents is that some patients find that the stiffness of spasticity helps them to overcome the muscle weakness that occurs in HSP. When patients are medicated to reduce stiffness, walking may become more difficult. Adverse effects can also be a problem. […] If the patient does well with the medications, however, discomfort associated with spasticity can generally be reduced, mobility can be improved, and the effectiveness of PT can be enhanced. Patients in relatively early stages of the illness have achieved symptomatic improvement with oral dantrolene, as well as with oral and intrathecal baclofen. […] Baclofen may induce the hyperpolarization of afferent terminals and inhibit monosynaptic and polysynaptic reflexes at the spinal level. […] Tizanidine is a centrally acting muscle relaxant that is metabolized in the liver and excreted in urine and feces. A single oral dose of 8 mg reduces muscle tone in patients with spasticity for several hours. Blood levels and the spasmolytic effect are linearly correlated. […] Dantrolene sodium stimulates muscle relaxation by modulating skeletal muscle contractions at the site beyond the myoneural junction and acting directly on the muscle itself. Most patients respond to 400 mg/day or less. […] Botulinum toxin binds to receptor sites on motor nerve terminals and inhibits the release of acetylcholine, which in turn inhibits the transmission of impulses in neuromuscular tissue. This agent is most useful for treating spasticity in the gastrocnemius and soleus muscles; it is less effective in larger muscles (eg, quadriceps). Reexamine patients 7-14 days after the initial dose to assess for their response. Treatment may be repeated every 3-4 months.

• #8 Hereditary spastic paraplegia – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia

  No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. […] Therapeutics offered to HSP patients include: Baclofen a voluntary muscle relaxant to relax muscles and reduce tone. This can be administered orally or intrathecally. (Studies in HSP) […] Tizanidine to treat nocturnal or intermittent spasms (studies available) […] Diazepam and clonazepam to decrease intensity of spasms […] Oxybutynin chloride an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems […] Tolterodine tartrate an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems

• #9 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  Antispasticity medications can be useful. However, one of the drawbacks of using these agents is that some patients find that the stiffness of spasticity helps them to overcome the muscle weakness that occurs in HSP. When patients are medicated to reduce stiffness, walking may become more difficult. Adverse effects can also be a problem. […] If the patient does well with the medications, however, discomfort associated with spasticity can generally be reduced, mobility can be improved, and the effectiveness of PT can be enhanced. Patients in relatively early stages of the illness have achieved symptomatic improvement with oral dantrolene, as well as with oral and intrathecal baclofen. […] Baclofen may induce the hyperpolarization of afferent terminals and inhibit monosynaptic and polysynaptic reflexes at the spinal level. […] Tizanidine is a centrally acting muscle relaxant that is metabolized in the liver and excreted in urine and feces. A single oral dose of 8 mg reduces muscle tone in patients with spasticity for several hours. Blood levels and the spasmolytic effect are linearly correlated. […] Dantrolene sodium stimulates muscle relaxation by modulating skeletal muscle contractions at the site beyond the myoneural junction and acting directly on the muscle itself. Most patients respond to 400 mg/day or less. […] Botulinum toxin binds to receptor sites on motor nerve terminals and inhibits the release of acetylcholine, which in turn inhibits the transmission of impulses in neuromuscular tissue. This agent is most useful for treating spasticity in the gastrocnemius and soleus muscles; it is less effective in larger muscles (eg, quadriceps). Reexamine patients 7-14 days after the initial dose to assess for their response. Treatment may be repeated every 3-4 months.

• #10 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  These agents may act in the spinal cord to induce muscle relaxation. […] Diazepam depresses all levels of the central nervous system (eg, limbic and reticular formation), possibly by increasing the activity of gamma-aminobutyric acid (GABA). Individualize the dosage, and increase it cautiously to avoid adverse effects.

• #11 Is Hereditary Spastic Paraplegia a Disability? Not to This Girl.

  https://www.brainandlife.org/articles/a-six-year-old-with-hereditary-spastic-paraplegia-keeps-moving

  HSP is considered a rare disease, defined by the National Institutes of Health (NIH) as one that affects fewer than 200,000 Americans. HSP refers to a group of inherited neurologic disorders that cause progressive weakness and spasticity, or stiffness, in the lower extremities, mostly the leg and hip muscles. […] At present, the underlying nerve degeneration in HSP cannot be prevented, stopped, or reversed, but there are treatments that can alleviate the symptoms. For example, benzodiazepines and muscle relaxants, including implanted pumps of baclofen, and injections of botulinum toxin (Botox) can reduce spasticity. There are also medications that can reduce urinary urgency. Stretching, physical and occupational therapy, and recreational exercise can help patients improve and maintain muscle flexibility, strength and balance, and range of motion. Orthotics, including shoe inserts or braces, as well as canes and walkers, can help make walking easier.

• #12 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  Antispasticity medications can be useful. However, one of the drawbacks of using these agents is that some patients find that the stiffness of spasticity helps them to overcome the muscle weakness that occurs in HSP. When patients are medicated to reduce stiffness, walking may become more difficult. Adverse effects can also be a problem. […] If the patient does well with the medications, however, discomfort associated with spasticity can generally be reduced, mobility can be improved, and the effectiveness of PT can be enhanced. Patients in relatively early stages of the illness have achieved symptomatic improvement with oral dantrolene, as well as with oral and intrathecal baclofen. […] Baclofen may induce the hyperpolarization of afferent terminals and inhibit monosynaptic and polysynaptic reflexes at the spinal level. […] Tizanidine is a centrally acting muscle relaxant that is metabolized in the liver and excreted in urine and feces. A single oral dose of 8 mg reduces muscle tone in patients with spasticity for several hours. Blood levels and the spasmolytic effect are linearly correlated. […] Dantrolene sodium stimulates muscle relaxation by modulating skeletal muscle contractions at the site beyond the myoneural junction and acting directly on the muscle itself. Most patients respond to 400 mg/day or less. […] Botulinum toxin binds to receptor sites on motor nerve terminals and inhibits the release of acetylcholine, which in turn inhibits the transmission of impulses in neuromuscular tissue. This agent is most useful for treating spasticity in the gastrocnemius and soleus muscles; it is less effective in larger muscles (eg, quadriceps). Reexamine patients 7-14 days after the initial dose to assess for their response. Treatment may be repeated every 3-4 months.

• #13 How Can We Improve Current Practice in Spastic Paresis? – touchNEUROLOGY

  https://touchneurology.com/movement-disorders/journal-articles/how-can-we-improve-current-practice-in-spastic-paresis/

  Physical therapy strategies include lengthening of the shorter of the two muscles around the joint, rapid alternating movement exercises of maximal amplitude and teaching self-management strategies. […] If muscle overactivity occurs, injection with botulinum neurotoxin (BoNT; see below) may decrease co-contraction and will allow the patient to continue with intensive rehabilitation. […] Botulinum toxin type A (BoNT-A) has a grade A recommendation from the American Academy of Neurology for the treatment of spasticity in adults and children. […] A meta-analysis of 16 clinical studies with BoNT-A indicated that it safely and effectively decreases muscle tone and increases range of motion. […] The optimal time to administer BoNT-A may be when muscle overactivity becomes evident and bothersome to the patient, resulting in impairment of active and passive functions, disability and associated reactions, or when it induces pain.

• #14 Hereditary spastic paraplegia – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia

  No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. […] Therapeutics offered to HSP patients include: Baclofen a voluntary muscle relaxant to relax muscles and reduce tone. This can be administered orally or intrathecally. (Studies in HSP) […] Tizanidine to treat nocturnal or intermittent spasms (studies available) […] Diazepam and clonazepam to decrease intensity of spasms […] Oxybutynin chloride an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems […] Tolterodine tartrate an involuntary muscle relaxant and spasmolytic agent, used to reduce spasticity of the bladder in patients with bladder control problems

• #15 Hereditary Spastic Paraplegia – Neurologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/neurologic-disorders/spinal-cord-disorders/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. […] Treatment is symptomatic, including medications to relieve spasticity. […] Treatment for all forms of hereditary spastic paraplegia is symptomatic. Baclofen or tizanidine is given for spasticity. Alternatives include diazepam, clonazepam, dantrolene, and botulinum toxin (botulinum toxin type A or botulinum toxin type B). Anticholinergic agents, such as oxybutynin, may be used for bladder spasticity. […] Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent spasms. Some patients benefit from using splints, a cane, or crutches. […] Treat symptoms (eg, baclofen or tizanidine for spasticity, physical therapy).

• #16 Hereditary Spastic Paraplegia Medication: Skeletal muscle relaxants, Anxiolytics, Benzodiazepines

  https://emedicine.medscape.com/article/306713-medication

  Antispasticity medications can be useful. However, one of the drawbacks of using these agents is that some patients find that the stiffness of spasticity helps them to overcome the muscle weakness that occurs in HSP. When patients are medicated to reduce stiffness, walking may become more difficult. Adverse effects can also be a problem. […] If the patient does well with the medications, however, discomfort associated with spasticity can generally be reduced, mobility can be improved, and the effectiveness of PT can be enhanced. Patients in relatively early stages of the illness have achieved symptomatic improvement with oral dantrolene, as well as with oral and intrathecal baclofen. […] Baclofen may induce the hyperpolarization of afferent terminals and inhibit monosynaptic and polysynaptic reflexes at the spinal level. […] Tizanidine is a centrally acting muscle relaxant that is metabolized in the liver and excreted in urine and feces. A single oral dose of 8 mg reduces muscle tone in patients with spasticity for several hours. Blood levels and the spasmolytic effect are linearly correlated. […] Dantrolene sodium stimulates muscle relaxation by modulating skeletal muscle contractions at the site beyond the myoneural junction and acting directly on the muscle itself. Most patients respond to 400 mg/day or less. […] Botulinum toxin binds to receptor sites on motor nerve terminals and inhibits the release of acetylcholine, which in turn inhibits the transmission of impulses in neuromuscular tissue. This agent is most useful for treating spasticity in the gastrocnemius and soleus muscles; it is less effective in larger muscles (eg, quadriceps). Reexamine patients 7-14 days after the initial dose to assess for their response. Treatment may be repeated every 3-4 months.

• #17 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP). Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. […] Moreover, a double-blind, randomized, crossover, sham-controlled study by Ardolino et al indicated that anodal transcutaneous spinal direct current stimulation (tsDCS) can significantly reduce spasticity in HSP. In comparison with the sham group, the anodal patients demonstrated improvement in the Ashworth Scale score, with the benefits still manifesting at 2-month follow-up. The investigators suggested that anodal tsDCS may offer a useful complementary spasticity treatment in HSP. […] Regular physical therapy (PT) is important for maintaining and improving range of motion (ROM) and muscle strength, as well as for maintaining aerobic conditioning of the cardiovascular system.

• #18 Hereditary Spastic Paraplegia – Brain, Spinal Cord, and Nerve Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/spinal-cord-disorders/hereditary-spastic-paraplegia

  Treatment includes physical therapy, exercise, and medications to reduce spasticity. […] Treatment of all forms of hereditary spastic paraplegia focuses on relieving symptoms. […] Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms. […] A muscle relaxant such as baclofen or tizanidine is given to reduce spasticity. Alternatively, botulinum toxin (a bacterial toxin used to paralyze muscles or to treat wrinkles), clonazepam, dantrolene, diazepam, or tizanidine may be used. Anticholinergic medications, such as oxybutynin, may be used to treat bladder spasticity. […] Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.

• #19 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist. […] Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT. […] The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises. […] Strengthening exercises help to strengthen muscles that have not yet weakened. […] Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps. […] Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

• #20 Hereditary Spastic Paraplegia – Neuro Therapy For HSP

  https://www.physiofunction.co.uk/conditions/neurological/hereditary-spastic-paraplegia

  Although there isnt currently a cure for Hereditary Spastic Paraplegia, there are treatments and therapies to help manage the condition and maintain a good quality of life. […] PhysioFunctions highly experienced neurological physiotherapists, rehabilitation therapists, sports therapists and personal trainers are able to deliver tailored physiotherapy and exercise programs for clients who have HSP. […] Some examples of the HSP therapy you may receive includes: Neurological Physiotherapy to help improve movement patterns and maintain functional ability […] Spasticity management to reduce stiffness and spasms through soft tissue massage techniques and stretching […] PFit exercise Rehabilitation Functional strength and resistance training in our PFit studio with expertise from our Sports and Exercise Therapists and Personal trainers.

• #21 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist. […] Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT. […] The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises. […] Strengthening exercises help to strengthen muscles that have not yet weakened. […] Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps. […] Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

• #22 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist. […] Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT. […] The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises. […] Strengthening exercises help to strengthen muscles that have not yet weakened. […] Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps. […] Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

• #23 Hereditary Spastic Paraplegia | Conditions | Liverpool Neuro Physio

  https://www.liverpoolneurophysio.co.uk/conditions-we-treat/hereditary-spastic-paraplegia.php

  Hereditary spastic paraplegia is a progressive illness, so it is important that physiotherapy treatment is commenced as soon as possible following diagnosis, to help maintain your mobility where possible in order to promote as much functional independence as possible. […] At Liverpool Neuro Physio our experienced physiotherapists often provide the following treatments for hereditary spastic paraplegia: Passive stretching techniques and stretching exercises to help to elongate muscles and prevent muscle stiffness. Stretching exercises can also help lessen the incidence of muscle spasms and cramps, as well as assisting in achieving a greater range of movement throughout joints. […] Unfortunately it is impossible to prevent or slow down the degenerative process affecting the motor neurons within the spinal cord. However effective physiotherapy treatment allows individuals with hereditary spastic paraplegia to maintain their active range of movement for as long as possible which simultaneously maximises the individuals functional independence and quality of life.

• #24 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist. […] Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT. […] The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises. […] Strengthening exercises help to strengthen muscles that have not yet weakened. […] Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps. […] Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

• #25 Hereditary Spastic Paraplegia – Neuro Therapy For HSP

  https://www.physiofunction.co.uk/conditions/neurological/hereditary-spastic-paraplegia

  Functional Electrical Stimulation on cycle or cross trainer to improve strength and endurance, cardiovascular health, co-ordination of muscle activity and help manage spasticity […] Hydrotherapy/Aquatic Physiotherapy to reduce spasticity, allow freedom of movement in water, improving strength and endurance. […] Assessment of specialist orthotics or FES devices such as Turbomed or Bioness GO to assist with Drop Foot […] Balance and Coordination Training to improve stability and reduce the risk of falls […] Pain management with musculoskeletal therapy – Acupuncture, electrotherapy, manual therapy, taping. […] Gait and balance training using Litegait, GMove, AlterG and Balance Trainer […] Cardiovascular Fitness training incorporating fatigue management […] Group exercise- We are also able to offer group exercise with our multi-level Neurofit classes which are delivered via Zoom following assessment from one of our specialist Physiotherapists.

• #26 Hereditary Spastic Paraplegia – Neuro Therapy For HSP

  https://www.physiofunction.co.uk/conditions/neurological/hereditary-spastic-paraplegia

  Functional Electrical Stimulation on cycle or cross trainer to improve strength and endurance, cardiovascular health, co-ordination of muscle activity and help manage spasticity […] Hydrotherapy/Aquatic Physiotherapy to reduce spasticity, allow freedom of movement in water, improving strength and endurance. […] Assessment of specialist orthotics or FES devices such as Turbomed or Bioness GO to assist with Drop Foot […] Balance and Coordination Training to improve stability and reduce the risk of falls […] Pain management with musculoskeletal therapy – Acupuncture, electrotherapy, manual therapy, taping. […] Gait and balance training using Litegait, GMove, AlterG and Balance Trainer […] Cardiovascular Fitness training incorporating fatigue management […] Group exercise- We are also able to offer group exercise with our multi-level Neurofit classes which are delivered via Zoom following assessment from one of our specialist Physiotherapists.

• #27 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  The aim is to investigate the use of non-pharmacological treatments in HSP, including magnetic field therapy, acupuncture, laser therapy, surgery, electric stimulation therapy, stretching, and physiotherapy. […] Most studies were uncontrolled and involving a small number of patients. Moreover, there was no specific indication of the appropriate timing and type of physical therapy. […] FES could be administered as bilateral FES of the common peroneal nerve or as a preferred pattern of stimulation involving other muscle groups. […] Hydrotherapy is a conservative physical treatment taking advantage of thermal, physical, and psychological effects to perform a range of motion, strength, and endurance exercises. […] When spasticity is refractory to pharmacological and physical therapies, invasive approaches such as intrathecal baclofen, spinal cord stimulation, or selective ablative procedures can be attempted.

• #28 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  The aim is to investigate the use of non-pharmacological treatments in HSP, including magnetic field therapy, acupuncture, laser therapy, surgery, electric stimulation therapy, stretching, and physiotherapy. […] Most studies were uncontrolled and involving a small number of patients. Moreover, there was no specific indication of the appropriate timing and type of physical therapy. […] FES could be administered as bilateral FES of the common peroneal nerve or as a preferred pattern of stimulation involving other muscle groups. […] Hydrotherapy is a conservative physical treatment taking advantage of thermal, physical, and psychological effects to perform a range of motion, strength, and endurance exercises. […] When spasticity is refractory to pharmacological and physical therapies, invasive approaches such as intrathecal baclofen, spinal cord stimulation, or selective ablative procedures can be attempted.

• #29 Hereditary Spastic Paraplegia – Neuro Therapy For HSP

  https://www.physiofunction.co.uk/conditions/neurological/hereditary-spastic-paraplegia

  Functional Electrical Stimulation on cycle or cross trainer to improve strength and endurance, cardiovascular health, co-ordination of muscle activity and help manage spasticity […] Hydrotherapy/Aquatic Physiotherapy to reduce spasticity, allow freedom of movement in water, improving strength and endurance. […] Assessment of specialist orthotics or FES devices such as Turbomed or Bioness GO to assist with Drop Foot […] Balance and Coordination Training to improve stability and reduce the risk of falls […] Pain management with musculoskeletal therapy – Acupuncture, electrotherapy, manual therapy, taping. […] Gait and balance training using Litegait, GMove, AlterG and Balance Trainer […] Cardiovascular Fitness training incorporating fatigue management […] Group exercise- We are also able to offer group exercise with our multi-level Neurofit classes which are delivered via Zoom following assessment from one of our specialist Physiotherapists.

• #30 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist. […] Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT. […] The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises. […] Strengthening exercises help to strengthen muscles that have not yet weakened. […] Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps. […] Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

• #31 Living with HSP – Management & Treatment – HSP Research Foundation

  https://hspersunite.org.au/about-hsp/living-with-hsp-management-treatment-background/

  A combination of spasticity management and exercises will invariably improve your walking. […] Physiotherapy can help you maintain or improve your ability to do day to day activities. […] Whether you experience pain as a direct result of your HSP or because of the altered ways of moving, physiotherapy can help manage the pain. […] The need for, and value of, these various health professionals depends on the individual HSPer their symptoms and their circumstances. […] As the type and severity of symptoms varies in important ways from one HSPer to another, it is highly recommended that HSPers seek professional help such as a neurophysiotherapist for assessment and the design of a tailor-made fitness program. […] Some HSPers have had surgery to relocate the tendons of the lower leg to facilitate walking. […] While there may not be a cure for HSP yet, there is much benefit to be gained from individuals investing in developing their own management and treatment programs, using a range of resources and the support of a wide range of professionals.

• #32 Hereditary spastic paraplegia

  https://www.nhs.uk/conditions/hereditary-spastic-paraplegia/

  It’s not possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so day-to-day activities become easier. […] For example: muscle relaxants, such as baclofen, tizandine and botulinum (Botox) injections, can be used to help relieve spasticity […] regular physiotherapy is important for helping improve and maintain muscle strength and range of movement […] occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible […] braces, splints or shoe inserts can help hold the foot in position and improve walking […] surgery may occasionally be needed to release tendons or shortened muscles.

• #33 Hereditary Spastic Paraplegia: What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia is a genetic condition that causes weakness and muscle tightness in your legs. […] Treatment options, like medications and physical therapy, are available to help you manage symptoms as they arise. […] There isnt a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include: […] Medications (muscle relaxants, botulinum toxin injections, baclofen). […] Physical therapy. […] Occupational therapy. […] Medical shoe inserts (orthotics). […] Mobility devices, like a cane, crutches, splints or a wheelchair. […] Your provider may have other treatment recommendations based on your symptoms.

• #34 Is Hereditary Spastic Paraplegia a Disability? Not to This Girl.

  https://www.brainandlife.org/articles/a-six-year-old-with-hereditary-spastic-paraplegia-keeps-moving

  HSP is considered a rare disease, defined by the National Institutes of Health (NIH) as one that affects fewer than 200,000 Americans. HSP refers to a group of inherited neurologic disorders that cause progressive weakness and spasticity, or stiffness, in the lower extremities, mostly the leg and hip muscles. […] At present, the underlying nerve degeneration in HSP cannot be prevented, stopped, or reversed, but there are treatments that can alleviate the symptoms. For example, benzodiazepines and muscle relaxants, including implanted pumps of baclofen, and injections of botulinum toxin (Botox) can reduce spasticity. There are also medications that can reduce urinary urgency. Stretching, physical and occupational therapy, and recreational exercise can help patients improve and maintain muscle flexibility, strength and balance, and range of motion. Orthotics, including shoe inserts or braces, as well as canes and walkers, can help make walking easier.

• #35 Hereditary spastic paraplegia

  https://www.nhs.uk/conditions/hereditary-spastic-paraplegia/

  It’s not possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so day-to-day activities become easier. […] For example: muscle relaxants, such as baclofen, tizandine and botulinum (Botox) injections, can be used to help relieve spasticity […] regular physiotherapy is important for helping improve and maintain muscle strength and range of movement […] occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible […] braces, splints or shoe inserts can help hold the foot in position and improve walking […] surgery may occasionally be needed to release tendons or shortened muscles.

• #36 Hereditary spastic paraplegia | nidirect

  https://www.nidirect.gov.uk/conditions/hereditary-spastic-paraplegia

  It isn’t possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier. […] For example: muscle relaxants and botulinum (Botox) injections can be used to help relieve spasticity […] regular physiotherapy is important for helping improve and maintain muscle strength and range of movement […] occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible […] ankle-foot orthosis can be worn on the lower leg to help straighten and control the ankle and foot and improve walking […] surgery may occasionally be needed to release tendons or shortened muscles.

• #37 Hereditary Spastic Paraplegia: What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia is a genetic condition that causes weakness and muscle tightness in your legs. […] Treatment options, like medications and physical therapy, are available to help you manage symptoms as they arise. […] There isnt a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include: […] Medications (muscle relaxants, botulinum toxin injections, baclofen). […] Physical therapy. […] Occupational therapy. […] Medical shoe inserts (orthotics). […] Mobility devices, like a cane, crutches, splints or a wheelchair. […] Your provider may have other treatment recommendations based on your symptoms.

• #38 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  Ankle-foot orthoses can be helpful to reduce toe dragging, as may transcutaneous peroneal nerve stimulation. […] Canes, walkers, or wheelchairs may eventually be required, though some individuals with HSP never require assistive devices for ambulation. Education on prevention of pressure ulcer formation and appropriate neurogenic bowel and bladder management should also be initiated. Medications, such as oxybutynin, are helpful in managing urinary urgency. Measures of lower limb spasticity, gait quality, and mobility can be helpful in determining effectiveness of treatment. […] Genetic counseling in HSP is improved by the availability of gene testing. Even with genetic testing, providers should be cautious given the variability of presentation of HSP phenotypes. Genetic assessment and counseling are recommended in patients and their families in order to better understand the risk of transmission to successive generations.

• #39 Hereditary Spastic Paraplegia – Neuro Therapy For HSP

  https://www.physiofunction.co.uk/conditions/neurological/hereditary-spastic-paraplegia

  Functional Electrical Stimulation on cycle or cross trainer to improve strength and endurance, cardiovascular health, co-ordination of muscle activity and help manage spasticity […] Hydrotherapy/Aquatic Physiotherapy to reduce spasticity, allow freedom of movement in water, improving strength and endurance. […] Assessment of specialist orthotics or FES devices such as Turbomed or Bioness GO to assist with Drop Foot […] Balance and Coordination Training to improve stability and reduce the risk of falls […] Pain management with musculoskeletal therapy – Acupuncture, electrotherapy, manual therapy, taping. […] Gait and balance training using Litegait, GMove, AlterG and Balance Trainer […] Cardiovascular Fitness training incorporating fatigue management […] Group exercise- We are also able to offer group exercise with our multi-level Neurofit classes which are delivered via Zoom following assessment from one of our specialist Physiotherapists.

• #40 Hereditary Spastic Paraparesis/Paraplegia – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/hereditary-spastic-paraplegia/

  Hereditary Spastic Paraparesis/Paraplegia (HSP) causes difficulty walking. […] HSP is a genetic disorder. It can be caused by a mutation in any of a large number of genes. […] Treatment plans are guided by the symptoms of HSP. Some children may not require treatment. These children may be monitored by neurologist on a yearly basis depending on their symptoms. […] Possible treatments include: […] Medications, to help with muscle tightness and pain […] Custom-designed shoe inserts and braces […] Physical and occupational therapy, to help with motor skills and function […] Speech therapy, to help with cognitive and language skills […] Wheelchairs, walkers, and other mobility equipment […] Surgery […] Individual and family counseling […] Accommodations for school […] Antiseizure medications if seizures are present. […] There is currently no cure for HSP. However, there are many treatments for the symptoms.

• #41 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  The aim is to investigate the use of non-pharmacological treatments in HSP, including magnetic field therapy, acupuncture, laser therapy, surgery, electric stimulation therapy, stretching, and physiotherapy. […] Most studies were uncontrolled and involving a small number of patients. Moreover, there was no specific indication of the appropriate timing and type of physical therapy. […] FES could be administered as bilateral FES of the common peroneal nerve or as a preferred pattern of stimulation involving other muscle groups. […] Hydrotherapy is a conservative physical treatment taking advantage of thermal, physical, and psychological effects to perform a range of motion, strength, and endurance exercises. […] When spasticity is refractory to pharmacological and physical therapies, invasive approaches such as intrathecal baclofen, spinal cord stimulation, or selective ablative procedures can be attempted.

• #42

  https://link.springer.com/article/10.1007/s10072-023-07200-1

  The aim is to investigate the use of non-pharmacological treatments in HSP, including magnetic field therapy, acupuncture, laser therapy, surgery, electric stimulation therapy, stretching, and physiotherapy. […] When spasticity is refractory to pharmacological and physical therapies, invasive approaches such as intrathecal baclofen, spinal cord stimulation, or selective ablative procedures can be attempted. […] Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #43 Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6349696/

  The present literature survey found one open, uncontrolled trial, and two case reports evaluating the efficacy of ITB in HSP patients. […] The average lower extremity MAS score decreased after treatment (p 0.01), with no significant difference between the scores at 1 and 2 years after SDR. Lower limb spasm scores also improved significantly. […] Overall, the quality of the study was considered low (6/22). More patients should be followed up for a longer time and larger studies of SDR in specific genetic subtypes should be encouraged.

• #44

  https://link.springer.com/article/10.1007/s00381-023-06159-w

  To provide an overview of outcome and complications of selective dorsal rhizotomy (SDR) and intrathecal baclofen pump implantation (ITB) for spasticity treatment in children with hereditary spastic paraplegia (HSP). […] SDR is a feasible treatment option in carefully selected children with HSP, especially in walking patients. The majority of patients benefit with respect to gross motor function, complication risk is low. ITB was used in children with severe and progressive disease. […] Although most of the literature focusses on cerebral palsy (CP), these surgical options can also be considered in children with HSP. […] SDR is a single-event intervention, treating spasticity by partially transecting the posterior lumbosacral rootlets, to reduce the excitatory sensory input from the legs entering the spinal cord.

• #45

  https://link.springer.com/article/10.1007/s00381-023-06159-w

  To provide an overview of outcome and complications of selective dorsal rhizotomy (SDR) and intrathecal baclofen pump implantation (ITB) for spasticity treatment in children with hereditary spastic paraplegia (HSP). […] SDR is a feasible treatment option in carefully selected children with HSP, especially in walking patients. The majority of patients benefit with respect to gross motor function, complication risk is low. ITB was used in children with severe and progressive disease. […] Although most of the literature focusses on cerebral palsy (CP), these surgical options can also be considered in children with HSP. […] SDR is a single-event intervention, treating spasticity by partially transecting the posterior lumbosacral rootlets, to reduce the excitatory sensory input from the legs entering the spinal cord.

• #46

  https://link.springer.com/article/10.1007/s00381-023-06159-w

  The choice between these two treatment options was made individually for each patient. […] We conclude that SDR and ITB are safe and feasible treatment options in children and adolescents with HSP. The advantage of SDR is that it is a single procedure. A possible disadvantage may be that it is irreversible, although in our patients no negative effects were present. Whereas ITB treatment has the disadvantage of more hospital visits for pump refilling and long-term complications, such as catheter dysfunction, the advantage of ITB is that the baclofen dosage is adjustable and treatment is reversible, by removing the pump if needed.

• #47 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Repetitive transcranial magnetic stimulation (rTMS) can be either excitatory or inhibitory based on the frequency of stimulation, being respectively LTP or LTD mechanisms enhanced by high or low stimulation frequency. […] These results could support the hypothesis that tsDCS can induce pre-synaptic inhibition and post-activation depression, interfering with the maladaptive spinal hyperexcitability responsible for spasticity. […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #48 Spinal Cord Stimulation Therapy for Hereditary Spastic Paraplegias Patients | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT05196178/spinal-cord-stimulation-therapy-for-hereditary-spastic-paraplegias-patients

  It’s a single-center, prospective, open label clinical study with a 12 months follow-up period, to investigate the therapeutic effect and safety of spinal cord stimulation (SCS) on motor function and gait in patients with pure Hereditary Spastic Paraplegias. […] The objective of this study is to investigate the therapeutic effect and safety of spinal cord stimulation on motor function and gait in patients with pure hereditary spastic paraplegias. […] Some case studies suggest spinal cord stimulation may delay motor worsening and be innovative lines of research for the treatment of spastic paraplegia.

• #49 Hereditary spastic paraplegia

  https://www.nhs.uk/conditions/hereditary-spastic-paraplegia/

  It’s not possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so day-to-day activities become easier. […] For example: muscle relaxants, such as baclofen, tizandine and botulinum (Botox) injections, can be used to help relieve spasticity […] regular physiotherapy is important for helping improve and maintain muscle strength and range of movement […] occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible […] braces, splints or shoe inserts can help hold the foot in position and improve walking […] surgery may occasionally be needed to release tendons or shortened muscles.

• #50 Living with HSP – Management & Treatment – HSP Research Foundation

  https://hspersunite.org.au/about-hsp/living-with-hsp-management-treatment-background/

  A combination of spasticity management and exercises will invariably improve your walking. […] Physiotherapy can help you maintain or improve your ability to do day to day activities. […] Whether you experience pain as a direct result of your HSP or because of the altered ways of moving, physiotherapy can help manage the pain. […] The need for, and value of, these various health professionals depends on the individual HSPer their symptoms and their circumstances. […] As the type and severity of symptoms varies in important ways from one HSPer to another, it is highly recommended that HSPers seek professional help such as a neurophysiotherapist for assessment and the design of a tailor-made fitness program. […] Some HSPers have had surgery to relocate the tendons of the lower leg to facilitate walking. […] While there may not be a cure for HSP yet, there is much benefit to be gained from individuals investing in developing their own management and treatment programs, using a range of resources and the support of a wide range of professionals.

• #51

  https://link.springer.com/article/10.1007/s00381-023-06159-w

  The choice between these two treatment options was made individually for each patient. […] We conclude that SDR and ITB are safe and feasible treatment options in children and adolescents with HSP. The advantage of SDR is that it is a single procedure. A possible disadvantage may be that it is irreversible, although in our patients no negative effects were present. Whereas ITB treatment has the disadvantage of more hospital visits for pump refilling and long-term complications, such as catheter dysfunction, the advantage of ITB is that the baclofen dosage is adjustable and treatment is reversible, by removing the pump if needed.

• #52 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Repetitive transcranial magnetic stimulation (rTMS) can be either excitatory or inhibitory based on the frequency of stimulation, being respectively LTP or LTD mechanisms enhanced by high or low stimulation frequency. […] These results could support the hypothesis that tsDCS can induce pre-synaptic inhibition and post-activation depression, interfering with the maladaptive spinal hyperexcitability responsible for spasticity. […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #53

  https://link.springer.com/article/10.1007/s10072-023-07200-1

  The aim is to investigate the use of non-pharmacological treatments in HSP, including magnetic field therapy, acupuncture, laser therapy, surgery, electric stimulation therapy, stretching, and physiotherapy. […] When spasticity is refractory to pharmacological and physical therapies, invasive approaches such as intrathecal baclofen, spinal cord stimulation, or selective ablative procedures can be attempted. […] Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #54 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Repetitive transcranial magnetic stimulation (rTMS) can be either excitatory or inhibitory based on the frequency of stimulation, being respectively LTP or LTD mechanisms enhanced by high or low stimulation frequency. […] These results could support the hypothesis that tsDCS can induce pre-synaptic inhibition and post-activation depression, interfering with the maladaptive spinal hyperexcitability responsible for spasticity. […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #55 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP). Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. […] Moreover, a double-blind, randomized, crossover, sham-controlled study by Ardolino et al indicated that anodal transcutaneous spinal direct current stimulation (tsDCS) can significantly reduce spasticity in HSP. In comparison with the sham group, the anodal patients demonstrated improvement in the Ashworth Scale score, with the benefits still manifesting at 2-month follow-up. The investigators suggested that anodal tsDCS may offer a useful complementary spasticity treatment in HSP. […] Regular physical therapy (PT) is important for maintaining and improving range of motion (ROM) and muscle strength, as well as for maintaining aerobic conditioning of the cardiovascular system.

• #56 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Repetitive transcranial magnetic stimulation (rTMS) can be either excitatory or inhibitory based on the frequency of stimulation, being respectively LTP or LTD mechanisms enhanced by high or low stimulation frequency. […] These results could support the hypothesis that tsDCS can induce pre-synaptic inhibition and post-activation depression, interfering with the maladaptive spinal hyperexcitability responsible for spasticity. […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #57 Hereditary Spastic Paraplegia Physical Therapy Guide

  https://drchandrilchugh.com/hereditary-spastic-paraplegia/hereditary-spastic-paraplegia-physical-therapy/

  Whether its through targeted stretching, strength-building routines, gait retraining, or emerging therapies, movement offers hope. With the right team and the right mindset, it is possible to preserve independence, improve quality of life, and maintain the joy of living. […] It improves flexibility, muscle strength, coordination, and mobility. It also helps maintain independence and quality of life. […] Stretching, strengthening, gait training, aquatic therapy, and aerobic conditioning. […] Absolutely. Every plan is tailored to your current ability, goals, and lifestyle. […] Yes. Techniques like transcranial magnetic stimulation and VR-based rehabilitation show promising results in early studies. […] Because HSP affects physical, emotional, and psychological health. Having a well-rounded care team ensures every aspect is managed effectively.

• #58 Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review | springermedizin.de

  https://www.springermedizin.de/non-pharmacological-treatment-of-hereditary-spastic-paraplegia-a/26312442

  Non-invasive stimulation techniques are known to modify neuronal activity by modulating synaptic plasticity and interfering with processes like long-term potentiation (LTP) or depression (LTD). […] Repetitive transcranial magnetic stimulation (rTMS) can be either excitatory or inhibitory based on the frequency of stimulation, being respectively LTP or LTD mechanisms enhanced by high or low stimulation frequency. […] These results could support the hypothesis that tsDCS can induce pre-synaptic inhibition and post-activation depression, interfering with the maladaptive spinal hyperexcitability responsible for spasticity. […] Despite the mentioned limitations, new pathophysiological insights into spasticity can be obtained from this review. Even in HSP, spasticity is not a static process, and several plastic changes can occur both in the central nervous system (from the motor cortex to the spine) and at the level of the muscle.

• #59 Hereditary Spastic Paraplegia Physical Therapy Guide

  https://drchandrilchugh.com/hereditary-spastic-paraplegia/hereditary-spastic-paraplegia-physical-therapy/

  Physical therapy for hereditary spastic paraplegia isnt one-size-fits-all. A trained physiotherapist will design a personalized plan, but common techniques include: […] These therapies are still under clinical investigation but offer promising results for future HSP management. […] Managing hereditary spastic paraplegia is not the job of one personit requires a team: […] Together, they form a holistic safety net that empowers the patient to live a meaningful life. […] HSP is a chronic condition. That means frustration, sadness, or even isolation can creep in. Support groups, counselling, and open communication with your care team can make a big difference. […] Hereditary spastic paraplegia physical therapy is more than exercise. Its a lifelinean active fight against the limitations HSP tries to impose.

• #60 Hereditary spastic paraplegia (HSP) | MedLink Neurology

  https://www.medlink.com/articles/hereditary-spastic-paraplegia

  For severe cases, intrathecal baclofen treatment can be considered and has previously been found to be effective in relieving spasticity. […] Botulinum toxin is a well-established therapy for focal spasticity. […] Dalfampridine (4-aminopyridine) was trialed in an open, proof-of-concept study in a small group of patients with confirmed hereditary spastic paraplegia. […] Gene therapy aimed at restoring functional protein levels is a rational therapeutic strategy to ameliorate the disease phenotype.

• #61 Hereditary spastic paraplegia (HSP) | MedLink Neurology

  https://www.medlink.com/articles/hereditary-spastic-paraplegia

  For severe cases, intrathecal baclofen treatment can be considered and has previously been found to be effective in relieving spasticity. […] Botulinum toxin is a well-established therapy for focal spasticity. […] Dalfampridine (4-aminopyridine) was trialed in an open, proof-of-concept study in a small group of patients with confirmed hereditary spastic paraplegia. […] Gene therapy aimed at restoring functional protein levels is a rational therapeutic strategy to ameliorate the disease phenotype.

• #62 Hereditary spastic paraplegia: Journey to a treatment – Boston Children’s Answers

  https://answers.childrenshospital.org/hereditary-spastic-paraplegia-treatment/

  In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. […] Aside from interventions like occupational, physical, and speech therapy, there were no treatments. […] Eight years later, Ebrahimi-Fakhari’s lab has found a potential drug that may work for several subtypes of HSP, including SPG47. Several gene therapies are also in clinical development for other subtypes. […] The next challenge was to develop a treatment. […] Early efforts focused on developing gene therapies. One therapy, correcting the SPG50 gene, also supported by the Boston Children’s team, is now in a clinical trial sponsored by the UT Southwestern Medical Center. A second, aimed at correcting SPG47, will be submitted for a clinical trial to be sponsored by Boston Children’s.

• #63 AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient | Nature Medicine

  https://www.nature.com/articles/s41591-024-03078-4

  There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized treatment of an ultra-rare disease by establishing a gene replacement therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50). […] SPG50 is an ideal candidate disease for gene therapy. The coding sequence is small (1,359 base pairs) and fits within a self-complementary adeno-associated virus (scAAV) vector. Causative mutations result in loss of expression/function, so gene re-expression is anticipated to be effective, and the nature of the AP-4 complex as an obligate heterotetramer may protect against overexpression-related toxicity. […] Overall, this report supports the safety of gene therapy for SPG50 and provides insights into precision therapy development for rare diseases.

• #64 AAV Therapy: A Successful 1-Patient SPG50 Gene Therapy Trial

  https://www.ajmc.com/view/aav-therapy-a-successful-one-patient-spg50-gene-therapy-trial

  An adeno-associated virus (AAV) gene therapy for hereditary spastic paraplegia type 50 (SPG50) funded by a young patient’s family gives hope not only to a 4-year-old, but to researchers working on similar projects for other rare diseases. […] Canadian researchers successfully created and completed a phase 1 gene replacement therapy trial for a single patient. […] Additionally, these study results have spurred a larger US-based trial to treat other patients with SPG50. […] Twelve months after intrathetically receiving the adeno-associated virus (AAV)-based gene therapy product carrying the AP4M1 gene, the boy’s disease course seemed stabilized, the therapy was well tolerated, and he had experienced no serious adverse events. […] The authors noted that longer follow-up is, of course, necessary to confirm the therapy’s safety and to continue to provide insights on its efficacy but their work exemplifies the growing potential to develop gene- and/or mutation-specific treatments for many rare diseases.

• #65 Hereditary spastic paraplegia: Journey to a treatment – Boston Children’s Answers

  https://answers.childrenshospital.org/hereditary-spastic-paraplegia-treatment/

  In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. […] Aside from interventions like occupational, physical, and speech therapy, there were no treatments. […] Eight years later, Ebrahimi-Fakhari’s lab has found a potential drug that may work for several subtypes of HSP, including SPG47. Several gene therapies are also in clinical development for other subtypes. […] The next challenge was to develop a treatment. […] Early efforts focused on developing gene therapies. One therapy, correcting the SPG50 gene, also supported by the Boston Children’s team, is now in a clinical trial sponsored by the UT Southwestern Medical Center. A second, aimed at correcting SPG47, will be submitted for a clinical trial to be sponsored by Boston Children’s.

• #66 Hereditary Spastic Paraplegia: Journey to a Treatment

  https://reachmd.com/news/hereditary-spastic-paraplegia-journey-to-a-treatment/2462949/

  In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Childrens Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. […] Aside from interventions like occupational, physical, and speech therapy, there were no treatments. […] Eight years later, Ebrahimi-Fakharis lab has found a potential drug that may work for several subtypes of HSP, including SPG47. […] Early efforts focused on developing gene therapies. One therapy, correcting the SPG50 gene, also supported by the Boston Childrens team, is now in a clinical trial sponsored by the UT Southwestern Medical Center. A second, aimed at correcting SPG47, will be submitted for a clinical trial to be sponsored by Boston Childrens. […] From an initial group of 16 compounds that restored proper transport of ATG9A, one compound dubbed BCH-HSP-C0-1 made it through additional testing, including tests to ensure it works in neurons made from children with SPG47. […] If it does, the next step would be to apply to the FDA to do a clinical trial. While some symptoms of AP-4 HSP, like spasticity, are likely irreversible, Ebrahimi-Fakhari thinks theres a possibility that restoring ATG9A transport could prevent disease progression.

• #67 AAV9 Gene Therapy | Cure SPG4

  https://www.curespg4.org/genetherapy

  Recent advancements in gene therapy for genetic diseases have given hope to the SPG4 community. […] In 2020, Cure SPG4 Foundation initiated a collaboration between leading experts at UMass Chan Medical School and Drexel University College of Medicine to begin work on AAV9 gene therapy for SPG4 Hereditary Spastic Paraplegia. This project is ongoing. […] January 2022 – Dr. Miguel Sena-Esteves developed two AAV9 vectors designed to knock out the mutant SPAST and replace it with a healthy copy of the gene. This method can treat any form of SPG4, no matter the specific mutation within the SPAST gene. […] February 2023 – Positive initial results found after 3 months of treatment. […] May 2023 – SPG4 affected mice, treated for 6 months with AAV9 gene therapy, show statistically significant improvement in behavioral function. […] Goal is to test AAV9 gene therapy on SPG4 cattle, as they are excellent test subjects and more similar to humans. Critical funding is still needed to advance therapy to human trials!

• #68 AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient | Nature Medicine

  https://www.nature.com/articles/s41591-024-03078-4

  There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized treatment of an ultra-rare disease by establishing a gene replacement therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50). […] SPG50 is an ideal candidate disease for gene therapy. The coding sequence is small (1,359 base pairs) and fits within a self-complementary adeno-associated virus (scAAV) vector. Causative mutations result in loss of expression/function, so gene re-expression is anticipated to be effective, and the nature of the AP-4 complex as an obligate heterotetramer may protect against overexpression-related toxicity. […] Overall, this report supports the safety of gene therapy for SPG50 and provides insights into precision therapy development for rare diseases.

• #69 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  With advances in molecular biology and in defining cellular pathogenetic mechanisms, pharmacological manipulations of these pathways and evaluation of their effectiveness, seems increasingly possible in the future. […] Studies with small sample sizes have demonstrated improvement in walking speed with administration of 4-aminpyridine (Dalfampridine) in combination with physical therapy, although larger studies are warranted and ongoing. […] There is preliminary evidence that cholesterol-lowering medications, such as statins, may have potential in managing this particular subtype of HSP.

• #70 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  With advances in molecular biology and in defining cellular pathogenetic mechanisms, pharmacological manipulations of these pathways and evaluation of their effectiveness, seems increasingly possible in the future. […] Studies with small sample sizes have demonstrated improvement in walking speed with administration of 4-aminpyridine (Dalfampridine) in combination with physical therapy, although larger studies are warranted and ongoing. […] There is preliminary evidence that cholesterol-lowering medications, such as statins, may have potential in managing this particular subtype of HSP.

• #71 Symptomatic treatment of hereditary spastic paraplegias with fampridine: a pilot study – MDS Abstracts

  https://www.mdsabstracts.org/abstract/symptomatic-treatment-of-hereditary-spastic-paraplegias-with-fampridine-a-pilot-study/

  Symptomatic treatment of hereditary spastic paraplegias with fampridine: a pilot study […] Objective: Study the effect of fampridine in gait outcomes in patients with hereditary spastic paraplegia (HSP). […] Background: Scarce published data suggest fampridine might be beneficial in HSP. […] Conclusion: Despite study limitations, our results suggest a possible beneficial effect of this drug. Fampridine may be a new option for symptomatic treatment in HSP, but controlled, double blind clinical trials are necessary.

• #72 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  With advances in molecular biology and in defining cellular pathogenetic mechanisms, pharmacological manipulations of these pathways and evaluation of their effectiveness, seems increasingly possible in the future. […] Studies with small sample sizes have demonstrated improvement in walking speed with administration of 4-aminpyridine (Dalfampridine) in combination with physical therapy, although larger studies are warranted and ongoing. […] There is preliminary evidence that cholesterol-lowering medications, such as statins, may have potential in managing this particular subtype of HSP.

• #73 Decreasing ganglioside synthesis as a therapy for hereditary spastic paraplegia | ANR

  https://anr.fr/Project-ANR-19-CE17-0022

  Decreasing ganglioside synthesis as a therapy for hereditary spastic paraplegia […] Currently, the only available treatments are symptomatic, and do not prevent or delay the disease progression. […] Our objective is thus to provide proof of concept for targeting deleterious lipid synthesis as a therapy for SPG11, and begin translational steps for the development of this therapy for patients. […] This project will thus provide proof-of-concept for the development of an ASO-based treatment for SPG11 patients by inhibiting the synthesis of some deleterious lipids. […] The combined expertise of the two partners will ensure the feasibility of the project and will strongly accelerate the switch from preclinical to clinical stage.

• #74 Hereditary spastic paraplegia: Journey to a treatment – Boston Children’s Answers

  https://answers.childrenshospital.org/hereditary-spastic-paraplegia-treatment/

  Ebrahimi-Fakhari, however, wanted a treatment that would be accessible to a larger number of children, possibly an oral medication. […] From an initial group of 16 compounds that restored proper transport of ATG9A, one compound dubbed BCH-HSP-C0-1 made it through additional testing, including tests to ensure it works in neurons made from children with SPG47. […] If it does, the next step would be to apply to the FDA to do a clinical trial. While some symptoms of AP-4 HSP, like spasticity, are likely irreversible, Ebrahimi-Fakhari thinks there’s a possibility that restoring ATG9A transport could prevent disease progression.

• #75 Is Hereditary Spastic Paraplegia a Disability? Not to This Girl.

  https://www.brainandlife.org/articles/a-six-year-old-with-hereditary-spastic-paraplegia-keeps-moving

  „Symptomatic therapies [that treat the symptoms but not the cause of the disease] do have some benefit, but they don’t result in dramatic improvement from the current medications,” says Dr. Blackstone. „That’s why more research is so critical.” […] Texas Scottish Rite Hospital for Children has established a pediatric HSP clinic and a clinical database that currently includes 130 children, Dr. Delgado says. „The goal is to improve our understanding of pediatric-onset HSP, standardize assessments, and identify the best treatments for these patients. Collaborations with other institutions to identify the genetic cause of childhood-onset HSP are ongoing, but more research funding is needed to support these efforts.” […] „We want to understand HSP at its fundamental level and to develop interventions that can prevent the appearance and progression of symptoms.”

• #76

  https://link.springer.com/article/10.1007/s10072-023-07200-1

  The management of clinical manifestations in HSPs is challenging, even though the search for an effective treatment is still lagging. […] Pharmacological symptomatic treatment is still the cornerstone of HSP management, but a multidisciplinary approach can offer several advantages in order to ameliorate motor symptoms, in addition to improving the quality of life and psychological status of patients.

• #77 Hereditary Spastic Paraplegia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hereditary-spastic-paraplegia

  There is currently no cure for HSP. Available treatment can reduce symptoms and prevent complications. This may include physical therapy, occupational therapy, speech therapy, and other developmental supports; medications that reduce spasticity, injection of botulinum toxin, orthotics, and certain surgical procedures. […] Treatment requires an interdisciplinary approach, which may include referrals to several programs and services. The Movement Disorders Program at Boston Children’s Hospital is home to specialists with a variety of backgrounds and areas of focus. As a team, this diversity makes us better prepared to care for each child’s unique needs. […] At Boston Children’s Hospital, we care for patients with HSP in the Movement Disorders Program at the Department of Neurology, and in some case, the Neuromuscular Center, the Cerebral Palsy and Spasticity Center, and the Clinical Genetics Program.

• #78 Treatments and Therapies : HSP & PLS : Spastic Paraplegia Foundation

  https://sp-foundation.org/understanding-pls-hsp/treatments.html

  PLS and HSP affect individual people in different ways, and as a result, treatment programs will vary. […] Although there is no way to stop, slow, or reverse the progressive disability of these disorders, there are therapies that can help enhance function and comfort and promote general physical and emotional well-being. […] Your neurologist or physiatrist will develop an individualized program, often with consultation from other professionals. […] The treatment team may include an orthopedist, physical therapist, occupational therapist, speech and language pathologist, social worker, or psychologist. […] We need to stretch our tight muscles and strengthen the weak muscles to slow down progression and hopefully keep ourselves walking.

• #79 Hereditary Spastic Paraplegia – Brain, Spinal Cord, and Nerve Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/spinal-cord-disorders/hereditary-spastic-paraplegia

  Treatment includes physical therapy, exercise, and medications to reduce spasticity. […] Treatment of all forms of hereditary spastic paraplegia focuses on relieving symptoms. […] Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms. […] A muscle relaxant such as baclofen or tizanidine is given to reduce spasticity. Alternatively, botulinum toxin (a bacterial toxin used to paralyze muscles or to treat wrinkles), clonazepam, dantrolene, diazepam, or tizanidine may be used. Anticholinergic medications, such as oxybutynin, may be used to treat bladder spasticity. […] Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.

• #80 Treatments and Therapies : HSP & PLS : Spastic Paraplegia Foundation

  https://sp-foundation.org/understanding-pls-hsp/treatments.html

  PLS and HSP affect individual people in different ways, and as a result, treatment programs will vary. […] Although there is no way to stop, slow, or reverse the progressive disability of these disorders, there are therapies that can help enhance function and comfort and promote general physical and emotional well-being. […] Your neurologist or physiatrist will develop an individualized program, often with consultation from other professionals. […] The treatment team may include an orthopedist, physical therapist, occupational therapist, speech and language pathologist, social worker, or psychologist. […] We need to stretch our tight muscles and strengthen the weak muscles to slow down progression and hopefully keep ourselves walking.

• #81 Treatments and Therapies : HSP & PLS : Spastic Paraplegia Foundation

  https://sp-foundation.org/understanding-pls-hsp/treatments.html

  PLS and HSP affect individual people in different ways, and as a result, treatment programs will vary. […] Although there is no way to stop, slow, or reverse the progressive disability of these disorders, there are therapies that can help enhance function and comfort and promote general physical and emotional well-being. […] Your neurologist or physiatrist will develop an individualized program, often with consultation from other professionals. […] The treatment team may include an orthopedist, physical therapist, occupational therapist, speech and language pathologist, social worker, or psychologist. […] We need to stretch our tight muscles and strengthen the weak muscles to slow down progression and hopefully keep ourselves walking.

• #82 Treatments and Therapies : HSP & PLS : Spastic Paraplegia Foundation

  https://sp-foundation.org/understanding-pls-hsp/treatments.html

  PLS and HSP affect individual people in different ways, and as a result, treatment programs will vary. […] Although there is no way to stop, slow, or reverse the progressive disability of these disorders, there are therapies that can help enhance function and comfort and promote general physical and emotional well-being. […] Your neurologist or physiatrist will develop an individualized program, often with consultation from other professionals. […] The treatment team may include an orthopedist, physical therapist, occupational therapist, speech and language pathologist, social worker, or psychologist. […] We need to stretch our tight muscles and strengthen the weak muscles to slow down progression and hopefully keep ourselves walking.

• #83 Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01915-0

  Independent of the type of pharmacological intervention, 35-46% of these participants experienced decreased spasticity and improved general fitness. […] In addition, the provision of adequate information about non-pharmacological and pharmacological interventions seems to be insufficient for many patients to allow shared decision making. […] Physiotherapy was by far the most often proposed non-pharmacological intervention (81%), followed by orthopedic footwear (55%) and splints (28%). […] Oral spasmolytic drugs (41%) were most often proposed, followed by intramuscular botulinum toxin (BTX) injections (26%). […] A combination of pharmacological interventions was advised to 14% of the participants, whereas 38% reported to have not been offered any spasmolytic treatment. […] Improved gait and movement was more likely to occur after treatment with BTX injections (35-38%), compared to oral drugs (7-13%) or ITB (20-25%). […] The effect of the pharmacological treatment was mainly evaluated during the subsequent consultation with the treating physician.

• #84 Treatments and Therapies : HSP & PLS : Spastic Paraplegia Foundation

  https://sp-foundation.org/understanding-pls-hsp/treatments.html

  PLS and HSP affect individual people in different ways, and as a result, treatment programs will vary. […] Although there is no way to stop, slow, or reverse the progressive disability of these disorders, there are therapies that can help enhance function and comfort and promote general physical and emotional well-being. […] Your neurologist or physiatrist will develop an individualized program, often with consultation from other professionals. […] The treatment team may include an orthopedist, physical therapist, occupational therapist, speech and language pathologist, social worker, or psychologist. […] We need to stretch our tight muscles and strengthen the weak muscles to slow down progression and hopefully keep ourselves walking.

• #85 Hereditary Spastic Paraplegia Physical Therapy Guide

  https://drchandrilchugh.com/hereditary-spastic-paraplegia/hereditary-spastic-paraplegia-physical-therapy/

  Physical therapy for hereditary spastic paraplegia isnt one-size-fits-all. A trained physiotherapist will design a personalized plan, but common techniques include: […] These therapies are still under clinical investigation but offer promising results for future HSP management. […] Managing hereditary spastic paraplegia is not the job of one personit requires a team: […] Together, they form a holistic safety net that empowers the patient to live a meaningful life. […] HSP is a chronic condition. That means frustration, sadness, or even isolation can creep in. Support groups, counselling, and open communication with your care team can make a big difference. […] Hereditary spastic paraplegia physical therapy is more than exercise. Its a lifelinean active fight against the limitations HSP tries to impose.

• #86 Living with HSP – Management & Treatment – HSP Research Foundation

  https://hspersunite.org.au/about-hsp/living-with-hsp-management-treatment-background/

  A combination of spasticity management and exercises will invariably improve your walking. […] Physiotherapy can help you maintain or improve your ability to do day to day activities. […] Whether you experience pain as a direct result of your HSP or because of the altered ways of moving, physiotherapy can help manage the pain. […] The need for, and value of, these various health professionals depends on the individual HSPer their symptoms and their circumstances. […] As the type and severity of symptoms varies in important ways from one HSPer to another, it is highly recommended that HSPers seek professional help such as a neurophysiotherapist for assessment and the design of a tailor-made fitness program. […] Some HSPers have had surgery to relocate the tendons of the lower leg to facilitate walking. […] While there may not be a cure for HSP yet, there is much benefit to be gained from individuals investing in developing their own management and treatment programs, using a range of resources and the support of a wide range of professionals.

• #87 What Is Hereditary Spastic Paraplegia? An Overview

  https://drchandrilchugh.com/hereditary-spastic-paraplegia/what-is-hereditary-spastic-paraplegia-an-overview/

  If walking is hard, your doctor might suggest using braces or shoe inserts. These help you walk better and stop your muscles and joints from getting worse. For some, surgeries like muscle lengthening might be needed to help with severe stiffness or tightness. […] Treating HSP needs a team. This includes doctors, therapists, and sometimes surgeons. They work together to come up with a plan just for you. With this team, living with HSP can be more manageable, and life can get better. […] Treatment can make a big difference for HSP. It involves physical therapy and other care strategies. By working closely with a health team, people can improve their health. […] Regular check-ins with neurologists and physical therapists are key. They help to make a care plan that meets each person’s unique needs.

• #88 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  Ankle-foot orthoses can be helpful to reduce toe dragging, as may transcutaneous peroneal nerve stimulation. […] Canes, walkers, or wheelchairs may eventually be required, though some individuals with HSP never require assistive devices for ambulation. Education on prevention of pressure ulcer formation and appropriate neurogenic bowel and bladder management should also be initiated. Medications, such as oxybutynin, are helpful in managing urinary urgency. Measures of lower limb spasticity, gait quality, and mobility can be helpful in determining effectiveness of treatment. […] Genetic counseling in HSP is improved by the availability of gene testing. Even with genetic testing, providers should be cautious given the variability of presentation of HSP phenotypes. Genetic assessment and counseling are recommended in patients and their families in order to better understand the risk of transmission to successive generations.

• #89 Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01915-0

  Independent of the type of pharmacological intervention, 35-46% of these participants experienced decreased spasticity and improved general fitness. […] In addition, the provision of adequate information about non-pharmacological and pharmacological interventions seems to be insufficient for many patients to allow shared decision making. […] Physiotherapy was by far the most often proposed non-pharmacological intervention (81%), followed by orthopedic footwear (55%) and splints (28%). […] Oral spasmolytic drugs (41%) were most often proposed, followed by intramuscular botulinum toxin (BTX) injections (26%). […] A combination of pharmacological interventions was advised to 14% of the participants, whereas 38% reported to have not been offered any spasmolytic treatment. […] Improved gait and movement was more likely to occur after treatment with BTX injections (35-38%), compared to oral drugs (7-13%) or ITB (20-25%). […] The effect of the pharmacological treatment was mainly evaluated during the subsequent consultation with the treating physician.

• #90 Hereditary Spastic Paraplegia Treatment & Management: Approach Considerations, Physical Therapy

  https://emedicine.medscape.com/article/306713-treatment

  Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP). Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. […] Moreover, a double-blind, randomized, crossover, sham-controlled study by Ardolino et al indicated that anodal transcutaneous spinal direct current stimulation (tsDCS) can significantly reduce spasticity in HSP. In comparison with the sham group, the anodal patients demonstrated improvement in the Ashworth Scale score, with the benefits still manifesting at 2-month follow-up. The investigators suggested that anodal tsDCS may offer a useful complementary spasticity treatment in HSP. […] Regular physical therapy (PT) is important for maintaining and improving range of motion (ROM) and muscle strength, as well as for maintaining aerobic conditioning of the cardiovascular system.

• #91 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  Ankle-foot orthoses can be helpful to reduce toe dragging, as may transcutaneous peroneal nerve stimulation. […] Canes, walkers, or wheelchairs may eventually be required, though some individuals with HSP never require assistive devices for ambulation. Education on prevention of pressure ulcer formation and appropriate neurogenic bowel and bladder management should also be initiated. Medications, such as oxybutynin, are helpful in managing urinary urgency. Measures of lower limb spasticity, gait quality, and mobility can be helpful in determining effectiveness of treatment. […] Genetic counseling in HSP is improved by the availability of gene testing. Even with genetic testing, providers should be cautious given the variability of presentation of HSP phenotypes. Genetic assessment and counseling are recommended in patients and their families in order to better understand the risk of transmission to successive generations.

• #92 Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6349696/

  The present literature survey found one open, uncontrolled trial, and two case reports evaluating the efficacy of ITB in HSP patients. […] The average lower extremity MAS score decreased after treatment (p 0.01), with no significant difference between the scores at 1 and 2 years after SDR. Lower limb spasm scores also improved significantly. […] Overall, the quality of the study was considered low (6/22). More patients should be followed up for a longer time and larger studies of SDR in specific genetic subtypes should be encouraged.

• #93 Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01915-0

  Healthcare needs and expectations were primarily focused on the relief of muscle stiffness and reduction of balance and gait impairments (65-80%), but many participants also expressed needs regarding relief of non-motor symptoms (e.g. pain, fatigue), emotional problems, impaired sleep and self-care capacity, and participation problems (60%). […] Rehabilitation physicians and physiotherapists were more frequently consulted than neurologists and occupational therapists, respectively. Physiotherapy was the most often proposed non-pharmacological intervention (85%), followed by orthopedic footwear (55%) and splints (28%). […] Approximately one third of the participants was never offered any pharmacological (spasmolytic) treatment. Spasmolytic oral drugs, injections, and intrathecal baclofen were given to 41%, 26%, and 5% of the participants, respectively.

• #94 Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1338-4

  However, these studies mainly focused on gait speed and/or gait pattern as outcomes, and not on walking distance, performance of daily life activities, or falls. […] Overall, it is fair to conclude that there is an urgent need for future studies in people with HSP that investigate the underlying mechanisms of their balance and gait problems and increased fall risk in order to develop novel and convenient intervention strategies to preserve life-long ambulatory capacity and gait-related activities, and prevent falls. […] Our results indicate that people with HSP form no exception to this rule, and probably remain undertreated in these respects. […] Hence, also for sexual problems, a combination of urological / gynecological consultation and adequate spasticity management seems to be crucial. […] The use of a wheelchair and the presence of non-neurological comorbidities appeared to be strong protectors against being a faller.

• #95 Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01915-0

  Independent of the type of pharmacological intervention, 35-46% of these participants experienced decreased spasticity and improved general fitness. […] In addition, the provision of adequate information about non-pharmacological and pharmacological interventions seems to be insufficient for many patients to allow shared decision making. […] Physiotherapy was by far the most often proposed non-pharmacological intervention (81%), followed by orthopedic footwear (55%) and splints (28%). […] Oral spasmolytic drugs (41%) were most often proposed, followed by intramuscular botulinum toxin (BTX) injections (26%). […] A combination of pharmacological interventions was advised to 14% of the participants, whereas 38% reported to have not been offered any spasmolytic treatment. […] Improved gait and movement was more likely to occur after treatment with BTX injections (35-38%), compared to oral drugs (7-13%) or ITB (20-25%). […] The effect of the pharmacological treatment was mainly evaluated during the subsequent consultation with the treating physician.

• #96 Hereditary Spastic Paraplegia | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/hereditary-spastic-paraplegia

  Currently, no treatments can prevent, slow, or reverse HSP. However, treatments are available to help manage symptoms. For example, muscle relaxers may help reduce stiffness in the legs. Some people benefit from surgery to loosen tight muscles. Assistive devices like braces, walkers, or wheelchairs can also improve mobility. Regular physical therapy can help people with HSP maintain muscle strength and flexibility. […] The outlook for people with HSP varies. Some people experience severe disability, while others have only mild symptoms. Most people with HSP have a normal life expectancy.

• #97 Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6349696/

  The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. There currently exist no specific therapies for HSP, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving strength and gait. […] Treatment is exclusively symptomatic and aimed mainly at reducing muscle spasticity and urinary urgency, and improving strength and gait. Therapeutic options include physical therapy, oral antispastic drugs (baclofen, progabide, dalfampridine), botulinum toxin therapy, and surgical baclofen pump implantation. […] Despite recent advances in understanding of the pathogenesis of HSP and the possibility, in several centers, of obtaining more precise and rapid molecular diagnoses, there is still no adequate evidence base for recommending the various published therapies. Well-designed RCTs are needed to evaluate the efficacy of both symptomatic and pathogenetic treatments.

• #98 Hereditary spastic paraplegia: Journey to a treatment – Boston Children’s Answers

  https://answers.childrenshospital.org/hereditary-spastic-paraplegia-treatment/

  In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. […] Aside from interventions like occupational, physical, and speech therapy, there were no treatments. […] Eight years later, Ebrahimi-Fakhari’s lab has found a potential drug that may work for several subtypes of HSP, including SPG47. Several gene therapies are also in clinical development for other subtypes. […] The next challenge was to develop a treatment. […] Early efforts focused on developing gene therapies. One therapy, correcting the SPG50 gene, also supported by the Boston Children’s team, is now in a clinical trial sponsored by the UT Southwestern Medical Center. A second, aimed at correcting SPG47, will be submitted for a clinical trial to be sponsored by Boston Children’s.

• #99 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

  https://now.aapmr.org/hereditary-spastic-paraplegia/

  With advances in molecular biology and in defining cellular pathogenetic mechanisms, pharmacological manipulations of these pathways and evaluation of their effectiveness, seems increasingly possible in the future. […] Studies with small sample sizes have demonstrated improvement in walking speed with administration of 4-aminpyridine (Dalfampridine) in combination with physical therapy, although larger studies are warranted and ongoing. […] There is preliminary evidence that cholesterol-lowering medications, such as statins, may have potential in managing this particular subtype of HSP.

• #100 Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6349696/

  The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. There currently exist no specific therapies for HSP, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving strength and gait. […] Treatment is exclusively symptomatic and aimed mainly at reducing muscle spasticity and urinary urgency, and improving strength and gait. Therapeutic options include physical therapy, oral antispastic drugs (baclofen, progabide, dalfampridine), botulinum toxin therapy, and surgical baclofen pump implantation. […] Despite recent advances in understanding of the pathogenesis of HSP and the possibility, in several centers, of obtaining more precise and rapid molecular diagnoses, there is still no adequate evidence base for recommending the various published therapies. Well-designed RCTs are needed to evaluate the efficacy of both symptomatic and pathogenetic treatments.

• #101

  https://link.springer.com/article/10.1007/s10072-023-07200-1

  The management of clinical manifestations in HSPs is challenging, even though the search for an effective treatment is still lagging. […] Pharmacological symptomatic treatment is still the cornerstone of HSP management, but a multidisciplinary approach can offer several advantages in order to ameliorate motor symptoms, in addition to improving the quality of life and psychological status of patients.

• #102 Hereditary Spastic Paraplegia Physical Therapy Guide

  https://drchandrilchugh.com/hereditary-spastic-paraplegia/hereditary-spastic-paraplegia-physical-therapy/

  Whether its through targeted stretching, strength-building routines, gait retraining, or emerging therapies, movement offers hope. With the right team and the right mindset, it is possible to preserve independence, improve quality of life, and maintain the joy of living. […] It improves flexibility, muscle strength, coordination, and mobility. It also helps maintain independence and quality of life. […] Stretching, strengthening, gait training, aquatic therapy, and aerobic conditioning. […] Absolutely. Every plan is tailored to your current ability, goals, and lifestyle. […] Yes. Techniques like transcranial magnetic stimulation and VR-based rehabilitation show promising results in early studies. […] Because HSP affects physical, emotional, and psychological health. Having a well-rounded care team ensures every aspect is managed effectively.

• #103 Hereditary Spastic Paraplegia | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/hereditary-spastic-paraplegia

  Currently, no treatments can prevent, slow, or reverse HSP. However, treatments are available to help manage symptoms. For example, muscle relaxers may help reduce stiffness in the legs. Some people benefit from surgery to loosen tight muscles. Assistive devices like braces, walkers, or wheelchairs can also improve mobility. Regular physical therapy can help people with HSP maintain muscle strength and flexibility. […] The outlook for people with HSP varies. Some people experience severe disability, while others have only mild symptoms. Most people with HSP have a normal life expectancy.

• #104 Hereditary spastic paraplegia (HSP) | MedLink Neurology

  https://www.medlink.com/articles/hereditary-spastic-paraplegia

  For severe cases, intrathecal baclofen treatment can be considered and has previously been found to be effective in relieving spasticity. […] Botulinum toxin is a well-established therapy for focal spasticity. […] Dalfampridine (4-aminopyridine) was trialed in an open, proof-of-concept study in a small group of patients with confirmed hereditary spastic paraplegia. […] Gene therapy aimed at restoring functional protein levels is a rational therapeutic strategy to ameliorate the disease phenotype.

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