Materiały źródłowe

• #1 Hereditary Spastic Paraplegia: Practice Essentials, Etiology, Epidemiology

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

  Hereditary spastic paraplegia (HSP) is not a single disease entity; it is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. […] In pure HSP, symptoms are generally limited to gradual weakening in the legs, urinary bladder disturbance, spasticity, abnormal gait, decreased sense of balance, and, sometimes, impaired sensation in the feet. […] In complicated HSP, a rare disorder, additional symptoms may include the following: Peripheral neuropathy, Epilepsy, Ataxia, Optic neuropathy, Retinopathy, Dementia, Ichthyosis, Intellectual disability, Deafness, Problems with speech, swallowing, or breathing. […] Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP. Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. […] In patients with pure HSP, life expectancy typically is unaffected by the condition. Generalizations about the life expectancy of people with complicated HSP are difficult to make, because each patient has unique symptoms.

• #2 Hereditary spastic paraplegia – UpToDate

  https://www.uptodate.com/contents/hereditary-spastic-paraplegia

  Hereditary spastic paraplegia (HSP) refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. Clinically, they present with lower limb spasticity and weakness. […] HSPs are clinically differentiated into „pure” forms if spastic paraplegia with bladder involvement is the only clinical finding, and „complicated” (or complex) forms if there are additional neurologic or systemic abnormalities. […] The correlation of clinical classification (pure or complicated) with genetic classification (SPG type) is imperfect, and some genetic types of HSP are associated with both pure and complicated phenotypes.

• #3 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. […] This is a slowly progressive neurodegenerative disease process, which gradually results in spasticity and weakness in the bilateral lower extremities. […] Although there is clinical variability in HSP onset and progression, abrupt onset or rapid symptom progression are not characteristic and should suggest a different diagnosis. […] When HSP manifests in the first couple years of life, it is often nonprogressive for a couple decades followed by slow worsening thereafter. […] Later onset of symptoms in early childhood or in adults is characterized by slow, gradual progression. […] The mean age of onset for the most common autosomal-dominant HSP subtype (SPG4) is 31.7 years but cases have been reported with onset up to 70 years.

• #4 Ask the Doctors – What can I do about hereditary spastic paraplegia? | UCLA Health

  https://www.uclahealth.org/news/article/ask-the-doctors-what-can-i-do-about-hereditary-spastic-paraplegia

  Dear Doctors: I was having trouble with muscle spasms in my legs that made it hard to walk and have now been diagnosed with hereditary spastic paraplegia. […] Hereditary spastic paraplegia, or HSP, is an umbrella term for a group of neurological disorders that affect an individuals leg and hip muscles. […] The word spastic refers to the muscle stiffness and spasms that are a hallmark of this disease. Paraplegia, which comes from the Greek, is a fancy way of saying that a persons legs dont function properly. […] Taken together, this means that HSP is a genetic neurological disorder that affects an individuals ability to walk. It is also progressive, which means that it grows more pronounced over time. […] The main symptom of all types of HSP is slow and progressive weakness in the legs due to muscle stiffness, spasms and sometimes cramps. This can be also accompanied by fatigue, insomnia and pain. In most cases, the disease progresses at a steady rate. […] HSP appears in individuals of all ages, and this makes accurate diagnosis a challenge can present differently even within members of the same family. […] At this time there is no cure for HSP. Instead, medical care consists of therapies targeted to each individuals specific symptoms.

• #5 Hereditary spastic paraplegia

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

  Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. […] The severity and progression of symptoms will vary from person to person. […] About 90% of people with hereditary spastic paraplegia have what’s known as a „pure form” of the condition. […] This means their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity). […] The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs, increased muscle tone and stiffness (spasticity), problems peeing such as an urgent need to pee, even when the bladder is not full, and a lack of sensation in the feet (sometimes). […] People with the condition may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.

• #6 Hereditary spastic paraplegia | nidirect

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

  Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. […] The severity and progression of symptoms will vary from person to person. […] About 90 per cent of people with hereditary spastic paraplegia have a pure form. Their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity). […] The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs, increased muscle tone and stiffness (spasticity), urinary problems such as a sense of urgency even when the bladder isn’t full, a lack of sensation in the feet (sometimes). […] Children may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.

• #7 Hereditary spastic paraplegia

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

  Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. […] The severity and progression of symptoms will vary from person to person. […] About 90% of people with hereditary spastic paraplegia have what’s known as a „pure form” of the condition. […] This means their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity). […] The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs, increased muscle tone and stiffness (spasticity), problems peeing such as an urgent need to pee, even when the bladder is not full, and a lack of sensation in the feet (sometimes). […] People with the condition may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.

• #8 Hereditary spastic paraplegia | nidirect

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

  Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. […] The severity and progression of symptoms will vary from person to person. […] About 90 per cent of people with hereditary spastic paraplegia have a pure form. Their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity). […] The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs, increased muscle tone and stiffness (spasticity), urinary problems such as a sense of urgency even when the bladder isn’t full, a lack of sensation in the feet (sometimes). […] Children may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.

• #9 HSP : HSP & PLS : Spastic Paraplegia Foundation

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

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. The condition is characterized by insidiously progressive lower extremity weakness and spasticity. HSP is classified as uncomplicated or pure if neurological impairment is limited to the lower body. HSP is classified as complicated or complex if other systems are involved or if there are other neurological findings such as seizures, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy in the absence of other disorders such as diabetes mellitus. The hallmark of HSP is progressive difficulty walking due to increasingly weak and stiff (spastic) muscles. Symptoms appear in most people between the second and fourth decade of life, but they can start at any age. Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. As the disease progresses, canes, walkers and eventually wheelchairs may become needed, although some people never require assistive devices. Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched foot). Most people with HSP have uncomplicated HSP. There are also rare, complicated forms, which have additional symptoms, such as peripheral neuropathy, ichthyosis (a skin disorder) epilepsy, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, deafness, or problems with speech, swallowing or breathing. Generally, once symptoms begin, progression continues slowly throughout life. For some childhood-onset forms, symptoms become apparent, gradually worsen during childhood, and then stabilize after adolescence. HSP rarely results in complete loss of lower limb mobility.

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

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

  Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis, is a group of rare and progressive inherited disorders that cause weakness and stiffness of the legs (spasticity). There are more than 80 genetic types of HSP. Early on, people may have some trouble walking and feel some stiffness. Over time, these symptoms usually get worse. Many people with HSP eventually need a cane, walker, or wheelchair. […] The main signs of typical HSP are progressive leg stiffness and weakness. Most people with HSP have the pure or uncomplicated type, where spasticity and muscle weakness are the main symptoms. About 10% of people with HSP have whats called complicated HSP and may have additional neurological symptoms. […] 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.

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

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

  Hereditary spastic paraplegia (HSP) refers to a group of over 80 different genetic conditions that present with progressive spasticity (muscle tightness) and weakness. Many forms of HSP are rare or even ultra-rare diseases. […] The primary symptom of HSP is difficulty walking due to spasticity and weakness in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs (similar to “paralysis”). “Paraparesis” indicates weakness in both legs of lesser severity than paraplegia. Although the disorder is typically referred to as hereditary spastic paraplegia, the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). […] Spasticity primarily affects muscles of leg extension, knee flexion, hip adduction (bringing the knees together), and muscles that extend the feet.

• #12 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  In later stages, patients experience difficulty flexing the thigh muscle to raise the leg when walking. A reduced sense of balance is noted. Muscles weaken but also experience increased muscle tone. […] Some people also experience urinary problems (eg, incontinence or a sense of urgency even when the bladder is not full). […] A study by Kanavin and Fjermestad found that of 108 adults with HSP, 30.5% suffered from urinary incontinence at least daily/nightly, while 27.4% needed to urinate more than eight times daily and 51.9% experienced sudden urges to urinate. […] People with HSP also experience hyperactive reflexes. Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes.

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

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

  Toe walking is often an early symptom, and the walking pattern may eventually be described as a “spastic gait.” Tightness in the legs and leg muscle spasm (often at night) are not uncommon. […] Additional symptoms are variable depending on the subtype of HSP. Historically, “uncomplicated” or “pure” HSP refers to a combination of spastic weakness and urinary urgency. Many childhood-onset forms of HSP present with additional symptoms and are therefore called “complicated” or “complex” HSP. This may include developmental delays, intellectual disability, impaired speech, seizures, difficult with coordination (ataxia) or other movement disorders, and impaired vision or hearing. In some forms of HSP a small head size (microcephaly) or developmental brain malformations are common. […] When HSP begins in early childhood, the initial symptoms are often non-specific. The symptoms may initially resemble the symptoms seen in cerebral palsy, a life-long disorder that remains relatively stable. It is important to recognize that HSP is different from cerebral palsy, and early genetic testing can shorten the time to a diagnosis.

• #14 Hereditary spastic paraplegia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hereditary-spastic-paraplegia/

  Hereditary spastic paraplegias (HSP) are a rare group of inherited neurodegenerative diseases which mainly affect the longest axons of the corticospinal tract and the dorsal column (which supply the lower limbs). Patients present with upper motor neuron palsy of bilateral lower limbs, gait abnormalities, and urinary urgency/urge incontinence. HSP may be nonprogressive (childhood-onset) or progressive (adult-onset). Patients with progressive HSP are often wheelchair-bound by the age of 70 years. Pure HSP is characterized by an insidious onset and slow progression of the following symptoms: Upper motor neuron paralysis of bilateral lower limbs, spasticity/hypertonicity contractures, decreased muscle strength, gait abnormalities: delayed initiation of walking (childhood onset HSP); scissor gait (late onset HSP), brisk deep tendon reflexes; extensor plantar reflex (Babinski sign). Dorsal column dysfunction in bilateral lower limbs (usually mild; only detected on examination): decreased/loss of vibration sense, 2-point discrimination sense, and position sense. Complicated HSP patients have all the features of pure HSP as well as additional neurological features, such as: epilepsy, intellectual disability, dementia, cerebellar or extrapyramidal symptoms, peripheral neuropathy, loss of vision. Prognosis depends on the age of onset. Early onset HSP (in childhood): may be nonprogressive; most patients remain ambulant. Late onset: progressive; most patients will require wheelchairs by age 70. […] Patients with HSP have a normal life-expectancy.

• #15 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  In later stages, patients experience difficulty flexing the thigh muscle to raise the leg when walking. A reduced sense of balance is noted. Muscles weaken but also experience increased muscle tone. […] Some people also experience urinary problems (eg, incontinence or a sense of urgency even when the bladder is not full). […] A study by Kanavin and Fjermestad found that of 108 adults with HSP, 30.5% suffered from urinary incontinence at least daily/nightly, while 27.4% needed to urinate more than eight times daily and 51.9% experienced sudden urges to urinate. […] People with HSP also experience hyperactive reflexes. Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes.

• #16 Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation | Spinal Cord

  https://www.nature.com/articles/sc2011193

  Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by progressive spasticity and hyperreflexia of the lower limbs. Often, patients with HSP experience symptoms of voiding dysfunction. […] Urgency was the most dominant complaint (72.4%), followed by frequency (65.5%), urinary incontinence (55.2%) and hesitancy (51.7%). The urodynamic findings showed signs of central neurogenic bladder in 24 patients (82.7%), with detrusor overactivity (DO) in 15 patients (51.7%) and detrusor sphincter dyssynergia (DSD) in 19 (65.5%). Post-void residual (PVR) of 10% of the voided volume was found in 12 patients (41.4%). […] Despite the presence of DO and DSD, HSP patients do not seem to have a high risk of developing ultrasonographically-assessed upper urinary tract complications after a mean follow-up of 22 years, contrary to spinal cord injury population.

• #17 Hereditary spastic paraplegia

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

  In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy), epilepsy, problems with balance, co-ordination and speech (ataxia), eye problems such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy), dementia, ichthyosis a condition that causes widespread and persistent thick, dry „fish-scale” skin, learning and developmental problems, hearing loss, and speech, breathing or swallowing problems. […] The outlook for people with hereditary spastic paraplegia varies. Some people are severely affected and need a wheelchair, while others have mild symptoms and do not need to use a mobility aid.

• #18 Hereditary spastic paraplegia | nidirect

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

  Some people may eventually need to use a walking cane or a wheelchair to help them get around. Others may not need to use any type of mobility equipment. […] In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy), epilepsy, problems with balance, coordination and speech (ataxia), eye problems such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy), dementia, ichthyosis a condition that causes widespread and persistent thick, dry, „fish-scale” skin, learning and developmental problems, hearing loss, speech, breathing or swallowing problems. […] The outlook for people with hereditary spastic paraplegia varies. Some people are severely affected and need a wheelchair, while others have mild symptoms and don’t need to use a mobility aid. The condition doesn’t usually affect life expectancy, and most people are able to lead reasonably independent and active lives.

• #19 Hereditary Spastic Paraplegia: Practice Essentials, Etiology, Epidemiology

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

  Hereditary spastic paraplegia (HSP) is not a single disease entity; it is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. […] In pure HSP, symptoms are generally limited to gradual weakening in the legs, urinary bladder disturbance, spasticity, abnormal gait, decreased sense of balance, and, sometimes, impaired sensation in the feet. […] In complicated HSP, a rare disorder, additional symptoms may include the following: Peripheral neuropathy, Epilepsy, Ataxia, Optic neuropathy, Retinopathy, Dementia, Ichthyosis, Intellectual disability, Deafness, Problems with speech, swallowing, or breathing. […] Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP. Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. […] In patients with pure HSP, life expectancy typically is unaffected by the condition. Generalizations about the life expectancy of people with complicated HSP are difficult to make, because each patient has unique symptoms.

• #20 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

  Hereditary spastic paraplegia is a group of rare hereditary disorders that cause gradual weakness with muscle spasms (spastic weakness) in the legs. […] People with hereditary spastic paraplegia have exaggerated reflexes, cramps, and spasms, making walking difficult. […] Symptoms of hereditary spastic paraplegia may begin at any age from age 1 to old age depending on the form. […] Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky (called a spastic gait) when walking. Walking gradually becomes more difficult. […] Usually, symptoms continue to slowly worsen, but sometimes they level off after adolescence. […] Many forms of hereditary spastic paraplegia damage other parts of the body in addition to the spinal cord. These forms may cause other problems, such as eye problems, lack of muscle control, hearing loss, intellectual disability, dementia, and peripheral nerve disorders.

• #21 A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia

  https://www.imrpress.com/journal/JIN/23/6/10.31083/j.jin2306115/htm

  Hereditary Spastic Paraplegia (HSP), also known as Hereditary Spastic Paraparesis, Familial Spastic Paraplegia, and Strumpell-Lorrain syndrome, refers to a group of inherited neurodegenerative disorders characterized by lesions of the pyramidal tract. The disorder manifests with progressive lower limb spasticity and weakness, and exhibits wide clinical and genetic variability. […] In the “pure” form, HSP is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs, with possible association of sphincter disturbances and deep sensory loss. In the “complex” form, additional neurological or non-neurological features are present. […] The clinical course of the disorder has been reported to be usually slower in childhood onset than in adult onset, but this is not always the rule.

• #22 Hereditary spastic paraplegia – Wikipedia

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

  Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. Symptoms of HSP may begin at any age, from infancy to older than 60 years. If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. […] Disability has been described as progressing more rapidly in adult onset forms. […] More specifically, patients with the autosomal dominant pure form of HSP reveal normal facial and extraocular movement. […] In the complex form of the disorder, additional symptoms are present. These include: peripheral neuropathy, amyotrophy, ataxia, intellectual disability, ichthyosis, epilepsy, optic neuropathy, dementia, deafness, or problems with speech, swallowing or breathing. […] This classification is subjective and patients with complex HSPs are sometimes diagnosed as having cerebellar ataxia with spasticity, intellectual disability (with spasticity), or leukodystrophy.

• #23 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. Its progressive and can affect your mobility. Symptoms are progressive. This means they get worse over time. Early in your diagnosis, symptoms may make you feel clumsy. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms. The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include stiffness (spasticity) and weakness. Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include loss of feeling (numbness) in your feet, not being able to control when you pee, and feeling like you need to poop or pee when your bowels or bladder aren’t full. Other symptoms of complicated hereditary spastic paraplegia may include decline in mental function (dementia), difficulty with balance and coordination (ataxia), and nerve damage in your arms and legs (peripheral neuropathy). Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices. Symptoms can start at any age and progressively get worse. They may make simple, everyday activities like walking your dog or riding a bicycle challenging. In some cases, performing these activities may be unsafe.

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

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

  Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis, is a group of rare and progressive inherited disorders that cause weakness and stiffness of the legs (spasticity). There are more than 80 genetic types of HSP. Early on, people may have some trouble walking and feel some stiffness. Over time, these symptoms usually get worse. Many people with HSP eventually need a cane, walker, or wheelchair. […] The main signs of typical HSP are progressive leg stiffness and weakness. Most people with HSP have the pure or uncomplicated type, where spasticity and muscle weakness are the main symptoms. About 10% of people with HSP have whats called complicated HSP and may have additional neurological symptoms. […] 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.

• #25 Infantile-onset ascending hereditary spastic paralysis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/infantile-onset-ascending-hereditary-spastic-paralysis/

  Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). […] Affected infants are typically normal at birth, then within the first 2 years of life, the initial symptoms of infantile-onset ascending hereditary spastic paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. Muscles in the head and neck usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing. Affected individuals may lose the ability to speak (anarthria). The leg and arm muscle weakness can become so severe as to lead to paralysis; as a result affected individuals require wheelchair assistance by late childhood or early adolescence. […] Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with at least 30 cases reported in the scientific literature.

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

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

  Hereditary Spastic Paraparesis/Paraplegia (HSP) causes difficulty walking. In HSP, a person has tight and weak muscles. These tight muscles are also called spastic muscles. This is how the disorder gets its name. […] Symptoms of HSP can range from very mild to severe. The amount of muscle weakness a child experiences can vary. Some will have no weakness, or full strength. Others will have severe weakness, or paraplegia. Types of symptoms and their severity can even differ between family members with the same genetic mutation. […] The symptoms of HSP may worsen over time. Individuals with severe symptoms may lose the ability to walk independently. […] Overall, children diagnosed with HSP may have: Developmental delays in speaking, sitting, crawling, or walking; Difficulty walking; Leg muscle spasms or pain; Difficulty with urination; Intellectual disability; Damage in the nerves of the arms or legs (neuropathy); Seizures. […] There is currently no cure for HSP. However, there are many treatments for the symptoms.

• #27 Childhood Onset HSP | HSP Support Group

  https://hspgroup.org/childhood-onset-hsp/

  While hereditary spastic paraplegia (HSP) is more broadly known as an adult-onset rare neurological condition, it also affects children. […] Like adult-onset HSP, childhood onset hereditary spastic paraplegia (HSP) is a rare neurological disorder that primarily affects the legs and causes progressive stiffness and weakness of the muscles. […] Childhood HSP can be present from birth and starts being detected when children start missing developmental milestones. In other cases, children develop symptoms gradually, with a majority of children starting their symptoms around the age of three. […] The symptoms of HSP can vary widely from person to person, but typically include difficulty with walking, muscle spasms, muscle weakness, and problems with balance and coordination. These symptoms may be mild or severe, and may worsen over time as the disease progresses.

• #28

  https://journals.lww.com/pedorthopaedics/abstract/1988/07000/hereditary_spastic_paraplegia.6.aspx

  Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. All initial referrals were children with a slowly progressive paraplegia. Each child was noted to have slightly delayed motor milestones, normal intellect, and no history of perinatal cerebral event. Recognition is the key to management. A careful patient and family history will reveal the hereditary nature of the disease and help develop treatment plans.

• #29 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

  Hereditary spastic paraplegia is a group of rare hereditary disorders that cause gradual weakness with muscle spasms (spastic weakness) in the legs. […] People with hereditary spastic paraplegia have exaggerated reflexes, cramps, and spasms, making walking difficult. […] Symptoms of hereditary spastic paraplegia may begin at any age from age 1 to old age depending on the form. […] Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky (called a spastic gait) when walking. Walking gradually becomes more difficult. […] Usually, symptoms continue to slowly worsen, but sometimes they level off after adolescence. […] Many forms of hereditary spastic paraplegia damage other parts of the body in addition to the spinal cord. These forms may cause other problems, such as eye problems, lack of muscle control, hearing loss, intellectual disability, dementia, and peripheral nerve disorders.

• #30 HSP : HSP & PLS : Spastic Paraplegia Foundation

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

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. The condition is characterized by insidiously progressive lower extremity weakness and spasticity. HSP is classified as uncomplicated or pure if neurological impairment is limited to the lower body. HSP is classified as complicated or complex if other systems are involved or if there are other neurological findings such as seizures, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy in the absence of other disorders such as diabetes mellitus. The hallmark of HSP is progressive difficulty walking due to increasingly weak and stiff (spastic) muscles. Symptoms appear in most people between the second and fourth decade of life, but they can start at any age. Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. As the disease progresses, canes, walkers and eventually wheelchairs may become needed, although some people never require assistive devices. Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched foot). Most people with HSP have uncomplicated HSP. There are also rare, complicated forms, which have additional symptoms, such as peripheral neuropathy, ichthyosis (a skin disorder) epilepsy, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, deafness, or problems with speech, swallowing or breathing. Generally, once symptoms begin, progression continues slowly throughout life. For some childhood-onset forms, symptoms become apparent, gradually worsen during childhood, and then stabilize after adolescence. HSP rarely results in complete loss of lower limb mobility.

• #31 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. […] This is a slowly progressive neurodegenerative disease process, which gradually results in spasticity and weakness in the bilateral lower extremities. […] Although there is clinical variability in HSP onset and progression, abrupt onset or rapid symptom progression are not characteristic and should suggest a different diagnosis. […] When HSP manifests in the first couple years of life, it is often nonprogressive for a couple decades followed by slow worsening thereafter. […] Later onset of symptoms in early childhood or in adults is characterized by slow, gradual progression. […] The mean age of onset for the most common autosomal-dominant HSP subtype (SPG4) is 31.7 years but cases have been reported with onset up to 70 years.

• #32 Ask the Doctors – What can I do about hereditary spastic paraplegia? | UCLA Health

  https://www.uclahealth.org/news/article/ask-the-doctors-what-can-i-do-about-hereditary-spastic-paraplegia

  Dear Doctors: I was having trouble with muscle spasms in my legs that made it hard to walk and have now been diagnosed with hereditary spastic paraplegia. […] Hereditary spastic paraplegia, or HSP, is an umbrella term for a group of neurological disorders that affect an individuals leg and hip muscles. […] The word spastic refers to the muscle stiffness and spasms that are a hallmark of this disease. Paraplegia, which comes from the Greek, is a fancy way of saying that a persons legs dont function properly. […] Taken together, this means that HSP is a genetic neurological disorder that affects an individuals ability to walk. It is also progressive, which means that it grows more pronounced over time. […] The main symptom of all types of HSP is slow and progressive weakness in the legs due to muscle stiffness, spasms and sometimes cramps. This can be also accompanied by fatigue, insomnia and pain. In most cases, the disease progresses at a steady rate. […] HSP appears in individuals of all ages, and this makes accurate diagnosis a challenge can present differently even within members of the same family. […] At this time there is no cure for HSP. Instead, medical care consists of therapies targeted to each individuals specific symptoms.

• #33 Hereditary Spastic Paraplegia: An Update

  https://www.mdpi.com/1422-0067/23/3/1697

  Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. […] The critical manifestations include lower extremity bilateral spasticity, overactive reflexes, extensor plantar reflex, muscle fragility, and triggered gait deviations. […] HSPs can be triggered at infancy, toddling, puberty, or adulthood, with about 40% sporadic form. […] The following chromosomal markers and genes are involved in AD HSP. […] The mean age of patients upon manifestation is 31.7, with an exception of 70 in a few cases with spasticity of the lower limbs along with/without bladder and sensory dysfunction. […] A complicated form, also known as a complex form, is identified by the presence of other neurological or non-neurological manifestations such as seizures, dementia, muscle atrophy, ataxia, intellectual disability, peripheral neuropathy, extrapyramidal disturbance, gastroesophageal reflux, Dupuytren’s disease, or varicose veins.

• #34 Hereditary Spastic Paraplegia Exome | The University of Chicago Genetic Services

  https://dnatesting.uchicago.edu/tests/hereditary-spastic-paraplegia-exome

  Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower extremities due to pyramidal tract dysfunction. HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency. […] Age of onset of HSP can range from early childhood to late adulthood. In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed. For later onset cases, muscle weakness may be more marked, and symptoms may progress more rapidly compared to early onset cases. […] Age of onset of symptoms for the included genes ranges from infancy to adulthood.

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

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

  Pes cavus is also a common finding of the disease. […] Urinary sphincter disturbances, such as urgency, frequency, and hesitancy occur in most patients. […] Sensory impairment is evident in 10% to 65% of cases and is common in long-standing disease; incidence increases with disease duration. […] Restless legs syndrome of moderate and severe grade is also associated with hereditary spastic paraplegia. […] There is significant variability amongst individuals with hereditary spastic paraplegia with regard to disease course. […] Disease progression of hereditary spastic paraplegia overall is usually slow, although a later onset is associated with earlier loss of independent walking. […] Disease severity is related to genotype. […] The average rate of disease progression is observed to be slower for patients with SPG3A than SPG4 but did not differ when comparing individuals with onset before 20 years of age.

• #36 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  In general, subjects from families with well-documented uncomplicated HSP are not likely to develop complex HSP. […] This is helpful in predicting outcomes, because uncomplicated HSP makes upper extremity functional impairment, speech or swallowing problems, or a significantly reduced lifespan much less likely. […] In a large retrospective cohort of a mix of SPG types, the median disease duration until loss of independent walking was 22 years. […] After a duration of 20 years, 48% used a walking aid and 12% used a wheelchair, which increased to 72% and 29% respectively after a disease duration of 40 years.

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

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

  Gait disturbance progresses slowly without exacerbations, remissions, or worsening. […] In addition to hypertonicity causing spastic circumduction and toe walking, there is mild or absent muscle weakness. […] If muscle weakness is present, it usually involves iliopsoas, tibialis anterior, and, to a lesser extent, the hamstring muscles. […] Muscle wasting can occur, but it is uncommon; when present, it is found in distal muscles of the lower limbs, small muscles of the foot, and tibialis anterior, usually in patients who have had the disease for more than 10 years. […] Deep tendon reflexes may be brisk in the upper extremities and are pathologically increased in the lower extremities. […] Sometimes ankle jerk may be absent. […] Ankle clonus and extensor plantar responses occur in all patients.

• #38 What Causes Hereditary Spastic Paraplegia?

  https://www.icliniq.com/articles/genetic-disorders/hereditary-spastic-paraplegia

  When symptoms first appear in late childhood or later, they typically progress slowly and steadily. Individuals with progressively worsening gait are unlikely to experience a „functional plateau” after several years (the rate of a further worsening of the gait is similar to that attributable to age). […] Symptoms of uncomplicated (nonsyndromic) and complicated (syndromic) include: […] The neurologic impairment in uncomplicated (or pure) HSP is limited to progressive spastic weakness in the leg, hypertonic urinary bladder disturbance, and mild diminution of vibration sensation in the leg. […] Though symptoms may be incapacitating, life expectancy is not reduced. […] Complicated HSP is distinguished by the same impairments as uncomplicated HSP, along with other system involvement or other neurologic findings such as any of the following:

• #39 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. Its progressive and can affect your mobility. Symptoms are progressive. This means they get worse over time. Early in your diagnosis, symptoms may make you feel clumsy. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms. The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include stiffness (spasticity) and weakness. Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include loss of feeling (numbness) in your feet, not being able to control when you pee, and feeling like you need to poop or pee when your bowels or bladder aren’t full. Other symptoms of complicated hereditary spastic paraplegia may include decline in mental function (dementia), difficulty with balance and coordination (ataxia), and nerve damage in your arms and legs (peripheral neuropathy). Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices. Symptoms can start at any age and progressively get worse. They may make simple, everyday activities like walking your dog or riding a bicycle challenging. In some cases, performing these activities may be unsafe.

• #40 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  As previously mentioned, hereditary spastic paraplegia (HSP) is not a single disease entity but a group of clinically and genetically diverse disorders that cause progressive and generally severe lower extremity weakness and spasticity. […] After normal gestation, delivery, and early childhood development, subjects develop leg stiffness and gait disturbance (eg, stumbling, tripping) because of difficulty in dorsiflexing the foot and as a result of weakness in hip flexion. […] HSP is generally classified as pure or complicated. In pure HSP, symptoms are generally limited to gradual weakening in the legs, urinary bladder disturbance, spasticity, abnormal gait, decreased sense of balance, and, sometimes, impaired sensation in the feet. […] The classic symptom of HSP is progressive difficulty in walking, but the severity varies. Some patients eventually may require the use of a wheelchair, while others may never need any type of assistive device.

• #41 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  In general, subjects from families with well-documented uncomplicated HSP are not likely to develop complex HSP. […] This is helpful in predicting outcomes, because uncomplicated HSP makes upper extremity functional impairment, speech or swallowing problems, or a significantly reduced lifespan much less likely. […] In a large retrospective cohort of a mix of SPG types, the median disease duration until loss of independent walking was 22 years. […] After a duration of 20 years, 48% used a walking aid and 12% used a wheelchair, which increased to 72% and 29% respectively after a disease duration of 40 years.

• #42 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  Patients with HSP may have several possible complications, including the following: Gastrocnemius-soleus contracture, Cold feet, Fatigue, Back and knee pain, Stress and depression. […] A study by Schle et al of 608 patients with HSP found that the ability to walk unassisted was maintained by these patients for a median 22 years disease duration but that independent walking ability was maintained longer by patients who had early onset disease.

• #43 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  Lifespan is often normal in many cases of uncomplicated HSP. […] It is important to recognize that there is often variation in severity and progression within and between HSP families. […] Uncomplicated HSP is often associated with pes cavus, neurogenic bladder, and reduced vibratory sensation in the lower extremities. […] The SPG4 subtype usually presents with isolated lower limb spasticity with or without bladder dysfunction; the SPG3A and SPG31 subtypes, the next most common autosomal dominant subtypes, have similar presentation but additionally have associated axonal motor neuropathy up to 25% and 50% of cases respectively. […] Autosomal-recessive subtypes often present with lower extremity spasticity in the second decade of life and are associated with learning disabilities, ataxia, dysarthria, axonal motor neuropathies, and visual deficits.

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

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

  Pes cavus is also a common finding of the disease. […] Urinary sphincter disturbances, such as urgency, frequency, and hesitancy occur in most patients. […] Sensory impairment is evident in 10% to 65% of cases and is common in long-standing disease; incidence increases with disease duration. […] Restless legs syndrome of moderate and severe grade is also associated with hereditary spastic paraplegia. […] There is significant variability amongst individuals with hereditary spastic paraplegia with regard to disease course. […] Disease progression of hereditary spastic paraplegia overall is usually slow, although a later onset is associated with earlier loss of independent walking. […] Disease severity is related to genotype. […] The average rate of disease progression is observed to be slower for patients with SPG3A than SPG4 but did not differ when comparing individuals with onset before 20 years of age.

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

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

  Pes cavus is also a common finding of the disease. […] Urinary sphincter disturbances, such as urgency, frequency, and hesitancy occur in most patients. […] Sensory impairment is evident in 10% to 65% of cases and is common in long-standing disease; incidence increases with disease duration. […] Restless legs syndrome of moderate and severe grade is also associated with hereditary spastic paraplegia. […] There is significant variability amongst individuals with hereditary spastic paraplegia with regard to disease course. […] Disease progression of hereditary spastic paraplegia overall is usually slow, although a later onset is associated with earlier loss of independent walking. […] Disease severity is related to genotype. […] The average rate of disease progression is observed to be slower for patients with SPG3A than SPG4 but did not differ when comparing individuals with onset before 20 years of age.

• #46 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. Its progressive and can affect your mobility. Symptoms are progressive. This means they get worse over time. Early in your diagnosis, symptoms may make you feel clumsy. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms. The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include stiffness (spasticity) and weakness. Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include loss of feeling (numbness) in your feet, not being able to control when you pee, and feeling like you need to poop or pee when your bowels or bladder aren’t full. Other symptoms of complicated hereditary spastic paraplegia may include decline in mental function (dementia), difficulty with balance and coordination (ataxia), and nerve damage in your arms and legs (peripheral neuropathy). Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices. Symptoms can start at any age and progressively get worse. They may make simple, everyday activities like walking your dog or riding a bicycle challenging. In some cases, performing these activities may be unsafe.

• #47 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  Patients with HSP may have several possible complications, including the following: Gastrocnemius-soleus contracture, Cold feet, Fatigue, Back and knee pain, Stress and depression. […] A study by Schle et al of 608 patients with HSP found that the ability to walk unassisted was maintained by these patients for a median 22 years disease duration but that independent walking ability was maintained longer by patients who had early onset disease.

• #48 What Is Hereditary Spastic Paraplegia? An Overview

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

  Hereditary spastic paraplegia (HSP), or familial spastic paraparesis, is a group of inherited disorders. It causes weakness and stiffness in the legs. Symptoms can worsen over time without getting better. […] In early stages, walking may become a little difficult. Stiffness is also common. This usually progresses slowly, making aids like canes or wheelchairs necessary. […] HSPs signs can change a lot, affecting people differently. About 90% face the pure form. They mainly struggle with weak legs and muscle stiffness and spasms. The complicated form, affecting about 10%, brings more symptoms. […] Those with pure HSP often start with weaker legs. They also feel stiffer and have a higher muscle tone. They might find it hard to control their bladder or feel their feet. These issues get worse over time.

• #49 Hereditary spastic paraplegia – Wikipedia

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

  Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. […] Symptoms depend on the type of HSP inherited. The main feature of the disease is progressive spasticity in the lower limbs due to pyramidal tract dysfunction. This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances. Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. […] Individuals with HSP can experience extreme fatigue associated with central nervous system and neuromuscular disorders, which can be disabling.

• #50 What are the symptoms of Spastic Paraplegia? | Paris Brain Institute

  https://parisbraininstitute.org/disease-files/hereditary-spastic-paraplegia-hsp/what-are-symptoms-spastic-paraplegia

  The symptoms of hereditary spastic paraplegia vary widely among patients, even within families in terms of symptoms and age of onset. Generally, muscle weakness and stiffness, cramps or spasms make walking difficult and increase the risk of falls. The reflexes of the lower limbs are generally greatly increased. […] These symptoms are accompanied by extreme physical fatigue. […] In some patients, the signs get worse over time, while others may stop after adolescence. In 10% of cases, patients develop eye problems, intellectual deficits, loss of muscle control or deafness due to brain damage. […] Patients with spastic paraplegia may have symptoms suggestive of other neurodegenerative pathologies such as amyotrophic lateral sclerosis or cerebellar ataxia.

• #51 Hereditary Spastic Paraplegia Causes, Treatment, Home Remedies And More!

  https://www.lybrate.com/topic/hereditary-spastic-paraplegia

  Patients with HSP often fail to get proper sleep, due to muscular spasms at night and the urgency to urinate frequently. […] Gait disorder refers to abnormalities in the patients manner of walking. Patients with HSP will often find themselves tripping or slightly stumbling when they walk. […] There is no way to completely cure HSP or fully recover from it. It is only possible to minimise the symptoms of this condition with long term management and therapy. […] Treatment of HSP includes managing the symptoms throughout the patients lifespan. Completely curing this disorder is not possible. Hence, the results of treatment are not permanent.

• #52 Health survey of adults with hereditary spastic paraparesis compared to population study controls | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0

  Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. […] The HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. […] Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group. […] In complex HSP, an additional wide range of neurological features including ataxia, extra pyramidal signs, epilepsy, mental retardation, dementia, and peripheral nerve involvement occurs.

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

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

  Gait disturbance progresses slowly without exacerbations, remissions, or worsening. […] In addition to hypertonicity causing spastic circumduction and toe walking, there is mild or absent muscle weakness. […] If muscle weakness is present, it usually involves iliopsoas, tibialis anterior, and, to a lesser extent, the hamstring muscles. […] Muscle wasting can occur, but it is uncommon; when present, it is found in distal muscles of the lower limbs, small muscles of the foot, and tibialis anterior, usually in patients who have had the disease for more than 10 years. […] Deep tendon reflexes may be brisk in the upper extremities and are pathologically increased in the lower extremities. […] Sometimes ankle jerk may be absent. […] Ankle clonus and extensor plantar responses occur in all patients.

• #54 The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

  https://www.mdpi.com/1422-0067/23/14/7665

  Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). […] HSP includes complications such as losing vibration senses (abnormal sensory pathway) and loss of bladder control. […] The initial sign of HSP includes mild stiffness with or without the loss of muscle tone in the lower extremities. […] The degree of spasticity is disclosed by neurological tests in hamstrings, adductors, quadriceps, and gastrocnemius-soleus muscles leading to gait disturbances along with ankle dorsiflexion and hip flexion. […] Predominantly, progressive loss and weakness in the lower extremities are the common findings linked with the disability, and a hypertonic bladder results in urinary misfunctioning without affecting speech, cognition, and cranial nerves. […] The pure form of HSP can trigger at any age with slow progression over the years and elicit crossed reflexes of the adductor, extensor plantar, and ankle clonus generally. […] The presence of both genetic and phenotypic heterogeneity makes HSP treatment challenging.

• #55 Hereditary Spastic Paraplegia (HSP)

  https://www.ottobock.com/en-ie/orthotics-hsp

  HSP is also known as familial paraparesis or Strumpell-Lorrain syndrome and refers to a group of inherited disorders that affect the leg muscles, causing them to progressively weaken and stiffen over time. […] The initial signs are mild gait difficulties caused by stiffness (spasticity) in the leg muscles. The progression of the disease is typically slow, however gait becomes more difficult, often with uncontrollable shaking of the legs, increased spasticity in the leg muscles, reduced balance and coordination. […] A person may have weakness and increased spasticity (stiffness) in the leg muscles often causing the feet to point downwards and the legs to stiffen in gait. This often leads to difficulties clearing the feet and may cause tripping or falling or compensations such as hip hitching to help ambulate.

• #56 Hereditary Spastic Paraplegia (HSP)

  https://www.ottobock.com/en-ie/orthotics-hsp

  A person may develop tightness in the leg muscles as a result of spasticity and may suffer from leg cramps and muscle spasms. […] There is no cure for HSP and a person may increasingly require the assistance of a walking aid or wheelchair as the disorder progresses to help them in their daily life.

• #57 Hereditary Spastic Paraplegia Clinical Presentation: History, Physical Examination, Complications

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

  Patients with HSP may have several possible complications, including the following: Gastrocnemius-soleus contracture, Cold feet, Fatigue, Back and knee pain, Stress and depression. […] A study by Schle et al of 608 patients with HSP found that the ability to walk unassisted was maintained by these patients for a median 22 years disease duration but that independent walking ability was maintained longer by patients who had early onset disease.

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

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

  Overall, they found the median disease duration to loss of ambulation to be 22 years and approximately one quarter of patients will require a wheelchair regularly after 37 years of age. […] In general, hereditary spastic paraplegia does not limit life expectancy. […] In childhood-onset hereditary spastic paraplegia, there is a higher incidence of symptoms related to attention-deficit disorder, anxiety, and depression, which should be actively screened for.

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

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

  Overall, they found the median disease duration to loss of ambulation to be 22 years and approximately one quarter of patients will require a wheelchair regularly after 37 years of age. […] In general, hereditary spastic paraplegia does not limit life expectancy. […] In childhood-onset hereditary spastic paraplegia, there is a higher incidence of symptoms related to attention-deficit disorder, anxiety, and depression, which should be actively screened for.

• #60 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. Its progressive and can affect your mobility. Symptoms are progressive. This means they get worse over time. Early in your diagnosis, symptoms may make you feel clumsy. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms. The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include stiffness (spasticity) and weakness. Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include loss of feeling (numbness) in your feet, not being able to control when you pee, and feeling like you need to poop or pee when your bowels or bladder aren’t full. Other symptoms of complicated hereditary spastic paraplegia may include decline in mental function (dementia), difficulty with balance and coordination (ataxia), and nerve damage in your arms and legs (peripheral neuropathy). Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices. Symptoms can start at any age and progressively get worse. They may make simple, everyday activities like walking your dog or riding a bicycle challenging. In some cases, performing these activities may be unsafe.

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

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

  Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis, is a group of rare and progressive inherited disorders that cause weakness and stiffness of the legs (spasticity). There are more than 80 genetic types of HSP. Early on, people may have some trouble walking and feel some stiffness. Over time, these symptoms usually get worse. Many people with HSP eventually need a cane, walker, or wheelchair. […] The main signs of typical HSP are progressive leg stiffness and weakness. Most people with HSP have the pure or uncomplicated type, where spasticity and muscle weakness are the main symptoms. About 10% of people with HSP have whats called complicated HSP and may have additional neurological symptoms. […] 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.

• #62 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. Its progressive and can affect your mobility. Symptoms are progressive. This means they get worse over time. Early in your diagnosis, symptoms may make you feel clumsy. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms. The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include stiffness (spasticity) and weakness. Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include loss of feeling (numbness) in your feet, not being able to control when you pee, and feeling like you need to poop or pee when your bowels or bladder aren’t full. Other symptoms of complicated hereditary spastic paraplegia may include decline in mental function (dementia), difficulty with balance and coordination (ataxia), and nerve damage in your arms and legs (peripheral neuropathy). Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices. Symptoms can start at any age and progressively get worse. They may make simple, everyday activities like walking your dog or riding a bicycle challenging. In some cases, performing these activities may be unsafe.

• #63 Health survey of adults with hereditary spastic paraparesis compared to population study controls | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0

  Late onset, however, tends to imply rapid progression and loss of walking ability from around the age of 60 years and onwards. […] The majority (58 %) reported that HSP was genetically confirmed. […] Participants rated the overall impact of having HSP on a scale from 0 to 10, with 10 indicating the most negative impact. The mean rating was 7.2, with males rating a higher overall negative impact than females. […] The mean score for all participants on the physical impact scale was 24.0. […] In terms of mobility, 35 % reported to walk without aids outdoors, while 56 % reported to walk without aids indoors. […] Over half the sample reported not being able to take the bus, and nearly half the sample reported not being able to do more than basic house chores. […] The disease burden for adults with HSP is multifaceted, and involves problem areas not previously documented.

• #64 Health survey of adults with hereditary spastic paraparesis compared to population study controls | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0

  Late onset, however, tends to imply rapid progression and loss of walking ability from around the age of 60 years and onwards. […] The majority (58 %) reported that HSP was genetically confirmed. […] Participants rated the overall impact of having HSP on a scale from 0 to 10, with 10 indicating the most negative impact. The mean rating was 7.2, with males rating a higher overall negative impact than females. […] The mean score for all participants on the physical impact scale was 24.0. […] In terms of mobility, 35 % reported to walk without aids outdoors, while 56 % reported to walk without aids indoors. […] Over half the sample reported not being able to take the bus, and nearly half the sample reported not being able to do more than basic house chores. […] The disease burden for adults with HSP is multifaceted, and involves problem areas not previously documented.

• #65 Hereditary spastic paraplegia

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

  In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy), epilepsy, problems with balance, co-ordination and speech (ataxia), eye problems such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy), dementia, ichthyosis a condition that causes widespread and persistent thick, dry „fish-scale” skin, learning and developmental problems, hearing loss, and speech, breathing or swallowing problems. […] The outlook for people with hereditary spastic paraplegia varies. Some people are severely affected and need a wheelchair, while others have mild symptoms and do not need to use a mobility aid.

• #66 Hereditary spastic paraplegia | nidirect

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

  Some people may eventually need to use a walking cane or a wheelchair to help them get around. Others may not need to use any type of mobility equipment. […] In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy), epilepsy, problems with balance, coordination and speech (ataxia), eye problems such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy), dementia, ichthyosis a condition that causes widespread and persistent thick, dry, „fish-scale” skin, learning and developmental problems, hearing loss, speech, breathing or swallowing problems. […] The outlook for people with hereditary spastic paraplegia varies. Some people are severely affected and need a wheelchair, while others have mild symptoms and don’t need to use a mobility aid. The condition doesn’t usually affect life expectancy, and most people are able to lead reasonably independent and active lives.

• #67

  https://111.wales.nhs.uk/encyclopaedia/s/article/spasticparaplegia,hereditary

  Some people may eventually need to use a walking aid or a wheelchair to help them get around. […] In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy), epilepsy, problems with balance, co-ordination and speech (ataxia), eye problems such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy), dementia, ichthyosis a condition that causes widespread and persistent thick, dry, „fish-scale” skin, learning and developmental problems, hearing loss, speech, breathing or swallowing problems. […] The outlook for people with hereditary spastic paraplegia varies. Some people are severely affected and need a wheelchair, while others have mild symptoms and do not need to use a mobility aid. Pure hereditary spastic paraplegia does not usually affect life expectancy, and most people are able to lead relatively independent and active lives.

• #68 Orphanet: Hereditary spastic paraplegia

  https://www.orpha.net/en/disease/detail/685

  A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features. […] The prevalence of hereditary spastic paraplegia (HSP) is highly variable, ranging from 1/11,000-77,000 in Europe. […] Clinically, HSPs can be divided into the pure and complex form. Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with urinary disturbances, and deep sensory abnormalities (reduction of lower extremity vibration sense). Complex forms of HSP forms are characterized by the presence of additional neurological or non-neurological features. […] Management is symptomatic with physiotherapy, anti-spasticity drugs (baclofen, tizanidine, diazepam, botulinum toxin), and orthoses. […] Prognosis depends on the phenotype (pure/complex form), genotype, and is highly variable due to incomplete penetrance and variable gene expression.

• #69 Infantile-onset ascending hereditary spastic paralysis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/infantile-onset-ascending-hereditary-spastic-paralysis/

  Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). […] Affected infants are typically normal at birth, then within the first 2 years of life, the initial symptoms of infantile-onset ascending hereditary spastic paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. Muscles in the head and neck usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing. Affected individuals may lose the ability to speak (anarthria). The leg and arm muscle weakness can become so severe as to lead to paralysis; as a result affected individuals require wheelchair assistance by late childhood or early adolescence. […] Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with at least 30 cases reported in the scientific literature.

• #70 Orphanet: Infantile-onset ascending hereditary spastic paralysis

  https://www.orpha.net/en/disease/detail/293168

  Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. […] Affected patients are normal at birth and early development is mostly unremarkable. They then develop spastic paraplegia, increased reflexes and sustained lower limb stiffness in the first two years of life. By 7 to 8 years of age they also develop progressive weakness and spasticity extending to the upper limbs. Other signs include dysarthria, dysphagia (sometimes with drooling), and slow eye movements. Most become wheel-chair bound by late childhood or early adolescence and some patients have feeding difficulties (swallowing liquids) starting in the second decade. Subsequently, the disease progresses to severe spastic tetraparesis and a pseudobulbar syndrome may be observed. Cognitive function is generally preserved.

• #71 Orphanet: Infantile-onset ascending hereditary spastic paralysis

  https://www.orpha.net/en/disease/detail/293168

  There is currently no specific treatment. Management primarily involves physical and occupational therapy to promote mobility and independence. […] The vital prognosis is good with long-term survival in most cases. Quality of life, however, is affected by progressive neurological manifestations and loss of independence.

• #72 Hereditary Spastic Paraplegia | PM&R KnowledgeNow

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

  Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. […] This is a slowly progressive neurodegenerative disease process, which gradually results in spasticity and weakness in the bilateral lower extremities. […] Although there is clinical variability in HSP onset and progression, abrupt onset or rapid symptom progression are not characteristic and should suggest a different diagnosis. […] When HSP manifests in the first couple years of life, it is often nonprogressive for a couple decades followed by slow worsening thereafter. […] Later onset of symptoms in early childhood or in adults is characterized by slow, gradual progression. […] The mean age of onset for the most common autosomal-dominant HSP subtype (SPG4) is 31.7 years but cases have been reported with onset up to 70 years.

• #73 Hereditary spastic paraplegia – Wikipedia

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

  In the past, HSP has been classified as early onset beginning in early childhood or later onset in adulthood. […] New findings propose that an earlier onset leads to a longer disease duration without loss of ambulation or the need for the use of a wheelchair. […] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upper body involvement in some individuals. Some cases are seriously disabling whilst others leave people able to do most ordinary activities to an ordinary extent without needing adjustments. The majority of individuals with HSP have a normal life expectancy.

• #74 Hereditary Spastic Paraplegia Exome | The University of Chicago Genetic Services

  https://dnatesting.uchicago.edu/tests/hereditary-spastic-paraplegia-exome

  Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower extremities due to pyramidal tract dysfunction. HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency. […] Age of onset of HSP can range from early childhood to late adulthood. In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed. For later onset cases, muscle weakness may be more marked, and symptoms may progress more rapidly compared to early onset cases. […] Age of onset of symptoms for the included genes ranges from infancy to adulthood.

• #75 Childhood Onset HSP | HSP Support Group

  https://hspgroup.org/childhood-onset-hsp/

  While hereditary spastic paraplegia (HSP) is more broadly known as an adult-onset rare neurological condition, it also affects children. […] Like adult-onset HSP, childhood onset hereditary spastic paraplegia (HSP) is a rare neurological disorder that primarily affects the legs and causes progressive stiffness and weakness of the muscles. […] Childhood HSP can be present from birth and starts being detected when children start missing developmental milestones. In other cases, children develop symptoms gradually, with a majority of children starting their symptoms around the age of three. […] The symptoms of HSP can vary widely from person to person, but typically include difficulty with walking, muscle spasms, muscle weakness, and problems with balance and coordination. These symptoms may be mild or severe, and may worsen over time as the disease progresses.

• #76 Hereditary spastic paraplegia – Wikipedia

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

  In the past, HSP has been classified as early onset beginning in early childhood or later onset in adulthood. […] New findings propose that an earlier onset leads to a longer disease duration without loss of ambulation or the need for the use of a wheelchair. […] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upper body involvement in some individuals. Some cases are seriously disabling whilst others leave people able to do most ordinary activities to an ordinary extent without needing adjustments. The majority of individuals with HSP have a normal life expectancy.

• #77 Hereditary Spastic Paraplegia Exome | The University of Chicago Genetic Services

  https://dnatesting.uchicago.edu/tests/hereditary-spastic-paraplegia-exome

  Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower extremities due to pyramidal tract dysfunction. HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency. […] Age of onset of HSP can range from early childhood to late adulthood. In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed. For later onset cases, muscle weakness may be more marked, and symptoms may progress more rapidly compared to early onset cases. […] Age of onset of symptoms for the included genes ranges from infancy to adulthood.

• #78 Hereditary spastic paraplegia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hereditary-spastic-paraplegia/

  Hereditary spastic paraplegias (HSP) are a rare group of inherited neurodegenerative diseases which mainly affect the longest axons of the corticospinal tract and the dorsal column (which supply the lower limbs). Patients present with upper motor neuron palsy of bilateral lower limbs, gait abnormalities, and urinary urgency/urge incontinence. HSP may be nonprogressive (childhood-onset) or progressive (adult-onset). Patients with progressive HSP are often wheelchair-bound by the age of 70 years. Pure HSP is characterized by an insidious onset and slow progression of the following symptoms: Upper motor neuron paralysis of bilateral lower limbs, spasticity/hypertonicity contractures, decreased muscle strength, gait abnormalities: delayed initiation of walking (childhood onset HSP); scissor gait (late onset HSP), brisk deep tendon reflexes; extensor plantar reflex (Babinski sign). Dorsal column dysfunction in bilateral lower limbs (usually mild; only detected on examination): decreased/loss of vibration sense, 2-point discrimination sense, and position sense. Complicated HSP patients have all the features of pure HSP as well as additional neurological features, such as: epilepsy, intellectual disability, dementia, cerebellar or extrapyramidal symptoms, peripheral neuropathy, loss of vision. Prognosis depends on the age of onset. Early onset HSP (in childhood): may be nonprogressive; most patients remain ambulant. Late onset: progressive; most patients will require wheelchairs by age 70. […] Patients with HSP have a normal life-expectancy.

• #79 Hereditary spastic paraplegia – Wikipedia

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

  Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. Symptoms of HSP may begin at any age, from infancy to older than 60 years. If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. […] Disability has been described as progressing more rapidly in adult onset forms. […] More specifically, patients with the autosomal dominant pure form of HSP reveal normal facial and extraocular movement. […] In the complex form of the disorder, additional symptoms are present. These include: peripheral neuropathy, amyotrophy, ataxia, intellectual disability, ichthyosis, epilepsy, optic neuropathy, dementia, deafness, or problems with speech, swallowing or breathing. […] This classification is subjective and patients with complex HSPs are sometimes diagnosed as having cerebellar ataxia with spasticity, intellectual disability (with spasticity), or leukodystrophy.

• #80 Hereditary spastic paraplegia (HSP) | Paris Brain Institute

  https://parisbraininstitute.org/disease-files/hereditary-spastic-paraplegia-hsp

  Hereditary spastic paraplegia (HSP), also known as Strmpell-Lorrain disease, is a highly heterogeneous group of diseases. The main symptom of the disease is stiffness (spasticity) and weakness of the lower limbs, leading to severe walking difficulties due to damage to the motor neurons. […] Onset is usually in adulthood, but it can also appear in childhood. These diseases are said to be chronic, progressing at different rates depending on the patient, with some patients becoming totally unable to walk and others showing very few symptoms several years after diagnosis. […] In the pure forms of the disease, which are the most common forms, symptoms include stiffness, spasticity and weakness of the lower limbs, leading to severe walking difficulties. In more complex forms, balance disorders, eye damage, deafness and intellectual impairment may also occur, as well as spasticity. […] Hereditary Spastic Paraplegia (HSP) are a genetically heterogeneous group of invalidating neurological disorders characterized by a progressive difficulty walking due to stiff legs (spastic) and additional neurological signs like epilepsy, ataxia.

• #81 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Hereditary-Spastic-Paraplegia.aspx

  The symptoms of HSP depend on the subtype inherited. However, in all forms of HSP, the chief features include the progressive spasticity of limb muscles i.e. muscles of the limbs become stiff or feel tight, along with functional paralysis and increased tendon reflexes. In addition, there is extensive muscle weakness and perhaps bladder control issues. Impaired pain sensation is found in the legs in a majority of HSP patients. […] HSP is progressive and the symptoms worsen with age. However, depending on the type of HSP, symptoms may vary from very mild to severe disability. In the absence of complications, individuals with HSP may have normal life expectancy. […] The overall prevalence of HSP is estimated to be 2-6 /100,000 with the average age of onset being 24 years. The age of onset can vary significantly; however, the younger the onset, the more time there is for symptoms to progress. […] The overall prognosis for HSP varies significantly with the subtype of HSP inherited. Though the majority of HSP patients may have a normal lifespan, assistive measures may need to be put in place, to aid mobility, for example, depending on how disabling the symptoms are.

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

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

  Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis, is a group of rare and progressive inherited disorders that cause weakness and stiffness of the legs (spasticity). There are more than 80 genetic types of HSP. Early on, people may have some trouble walking and feel some stiffness. Over time, these symptoms usually get worse. Many people with HSP eventually need a cane, walker, or wheelchair. […] The main signs of typical HSP are progressive leg stiffness and weakness. Most people with HSP have the pure or uncomplicated type, where spasticity and muscle weakness are the main symptoms. About 10% of people with HSP have whats called complicated HSP and may have additional neurological symptoms. […] 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.

• #83 A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia

  https://www.imrpress.com/journal/JIN/23/6/10.31083/j.jin2306115/htm

  The initial symptoms of HSP include impaired walking with motor-developmental delay and balance problems. […] In the uncomplicated HSP type, the main clinical signs consist of progressive weakness and spasticity localized in the lower limbs, with gait disturbances, paresthesia, and urinary dysfunction. In the complicated HSP type, spastic paraparesis is a sign of a variable, complex, and heterogeneous clinical manifestation that may be associated with intellectual disability, ataxia, seizures, muscle atrophy, peripheral neuropathy, extrapyramidal disease, optic atrophy, deafness, and ichthyosis. […] There is currently no definite cure for HSP. Symptomatic treatments aim to reduce symptoms severity and prevent complications. The prognosis is variable, with some individuals severely disabled and others experiencing mild to moderate disability. Most individuals with uncomplicated HSP have a normal life expectancy.

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