Materiały źródłowe

• #1 Spinal Muscular Atrophy | SMA | MedlinePlus

  https://medlineplus.gov/spinalmuscularatrophy.html

  Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in your arms, legs, face, chest, throat, and tongue. […] As the motor neurons die off, your muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing. […] Treatments can help manage symptoms and prevent complications. They may include: […] Physical, occupational, and rehabilitation therapy to help to improve posture and the mobility of the joints. These therapies may also improve blood flow and slow muscle weakness and atrophy. Some people may also need therapy for trouble speaking, chewing, and swallowing.

• #2 Spinal muscular atrophy – Wikipedia

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

  Spinal muscular atrophy is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. […] The introduction of causative treatments in 2016 has significantly improved the outcomes. Medications that target the genetic cause of the disease include nusinersen, risdiplam, and the gene therapy medication onasemnogene abeparvovec. Supportive care includes physical therapy, occupational therapy, respiratory support, nutritional support, orthopaedic interventions, and mobility support. […] The management of SMA varies based upon the severity and type. In the most severe forms (types 0/1), individuals have the greatest muscle weakness requiring prompt intervention.

• #3 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. Theres no cure for SMA, but certain therapies and medications can help manage symptoms. […] SMA involves the loss of a specific type of nerve cell in your spinal cord called lower motor neurons, or anterior horn cells. These cells control muscle movement. Without these motor neurons, muscles dont receive the nerve signals that make them move. […] Treatment for SMA mainly seeks to manage symptoms and prevent complications. Symptom management therapies may include: Physical therapy, which can help improve posture, prevent joint immobility and slow muscle weakness. Occupational therapy, which can improve your ability to perform daily tasks. Assistive devices, like orthopaedic braces, crutches, walkers and wheelchairs. Therapy for speech and swallowing difficulties. A feeding tube if swallowing is too difficult and/or dangerous. Assisted ventilation for breathing issues. […] Unfortunately, there isnt a cure for SMA. […] If your child has SMA, its important to advocate for them to ensure they get the best medical care and as much access to therapy as possible. Advocating for care can help them have the best possible quality of life.

• #4 Spinal muscular atrophy | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/spinal-muscular-atrophy/

  Spinal muscular atrophy (SMA) is a condition that causes a loss (atrophy) of motor neurons, which are specific nerves in the brain and spinal cord that control movement. It is caused by a deficiency of the SMN protein, which is most often the result of a deletion (or loss) of part of the SMN1 gene. Without motor neurons, messages cannot be passed from the brain to the muscles of the body. In severe cases, a patient will not be able to sit independently, and their breathing and swallowing may be impaired. […] There is no cure for SMA. Many available treatments are supportive in nature and are aimed at improving the symptoms that are present in individuals with the condition. For children with the more severe forms of SMA, mechanical breathing aids may help with sleep and prolong lifespan. In addition, placement of a feeding tube may ensure proper nutrition in those with swallowing problems or feeding difficulties.

• #5 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types. This has led to a substantial improvement in survival of infantile-onset SMA. […] Important advances in the treatment of SMA since 2007 include: Expansion of the use of non-invasive ventilation and cough machine support, Introduction of early spinal surgery, Greater emphasis on a multidisciplinary approach to care, Advent of clinical trials and new drug approvals in spinal muscular atrophy. […] Adopting a proactive approach to care can influence the trajectory of disease progression and improve the natural history of SMA. SMA is a neuromuscular disease that requires multidisciplinary medical care, and in some instances, a palliative approach. […] For children with SMA, a proactive approach may include earlier placement of a feeding tube, intensive respiratory support (e.g. non-invasive ventilation and cough assist machines), early spinal surgery and regular sessions of physical therapy.

• #6 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] For children and adults with SMA, it can be important to have regular assessments of growth. An expert nutritionist or registered dietitian may recommend an appropriate diet, monitoring other factors such as weight, fluid, and nutrition intake particularly calcium and vitamin D for bone health. […] Muscle weakness may cause some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. A healthcare provider may recommend a temporary or long-term feeding tube put into place to provide the necessary nutrition and hydration.

• #7 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Scoliosis (curvature of the spine) is a common problem found in individuals with spinal muscular atrophy due to muscle weakness. An orthopedist may recommend postural support (bracing) or surgery for scoliosis. […] Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion. This can put them at risk of developing contractures, or tightness of the muscles, which can become permanent and prevent movement. A proactive approach, including regular sessions of physical therapy, may help influence the progression of SMA. […] The current guidelines of care for individuals with spinal muscular atrophy suggest that care is best accomplished with the help of many specialists and primary care providers. […] Neurologists are often the first doctors to meet with individuals suspected of having SMA, and should coordinate the multidisciplinary care team as needed.

• #8 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival in people with spinal muscular atrophy (SMA). […] In recent years the care for spinal muscular atrophy (SMA) has changed, and along with it the approach to care in managing the disease. Though SMA is a rare disease, there are some established guidelines to help both caregivers and healthcare professionals understand the different aspects of supportive care. […] The current guidelines recommend that a wide-ranging team of medical experts be involved in caring for a patient with spinal muscular atrophy, together with the family. This multidisciplinary care should be coordinated by one of the physicians generally the neurologist or paediatric neurologist.

• #9 Spinal Muscular Atrophy Care Team

  https://www.healthline.com/health/spinal-muscular-atrophy/navigating-sma/care-team

  Children with spinal muscular atrophy need care from specialists in several medical fields. A dedicated care team can help maximize your child’s quality of life. […] A good spinal muscular atrophy (SMA) care team can help your child avoid complications and meet their daily needs. A great care team will also guide their transition into adulthood. […] SMA can affect your entire family. A care team may also include social workers and community liaisons. These specialists can help connect everyone to supportive resources within your community. […] A nurse, nurse practitioner, or physician assistant (PA) will likely help coordinate your child’s care. They often become the go-to person in all aspects of support for your child, as well as your family. […] Your child’s pediatrician is also an important part of your SMA care team. They provide routine well-child visits, immunizations, and other care, particularly for children who live far from their specialty team.

• #10 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Pulmonologists monitor an individuals ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialized equipment to support. […] Nutrition is important for individuals with spinal muscular atrophy in order to promote growth and motor function. […] Orthopedists specialize in the surgical and nonsurgical treatment of conditions of the bones, joints, and soft tissue. […] Stretching and strength training is an important component of the preventive care approach for spinal muscular atrophy. Physical therapists may evaluate an individuals range of motion, muscle strength, and mobility. […] Genetic counselors can provide information on the consequences and genetic background of spinal muscular atrophy. […] While a physical therapist can assist with increasing overall mobility through exercise and assistive devices, an occupational therapist helps individuals increase their independence in specific everyday tasks like dressing, bathing, or handling utensils.

• #11 Spinal muscular atrophy (SMA) in children – Children’s Health Neurology

  https://www.childrens.com/specialties-services/conditions/spinal-muscular-atrophy-sma

  In addition to medication, your child will have access to a care team that works closely together to care for every aspect of their health, including: Neurologists who specialize in nerve and muscle conditions, Cardiologists who treat the heart, Pulmonologists who treat the lungs, Nutritionists who help ensure kids get the right nutrients in their diet, Physical and occupational therapists to help kids stretch their muscles and move more easily, Nurses who specialize in neurology disorders, Social workers and case managers who help manage each childs overall care. […] A range of specialists care for children with SMA, because these kids can have trouble controlling the muscles in different parts of their body. Childrens Health offers care from top pediatric experts in many different specialties.

• #12 Spinal Muscular Atrophy Treatment | UVA Health Children’s

  https://childrens.uvahealth.com/services/pediatric-neurology/sma

  Our neuromuscular team works closely with providers across UVA Health Children’s to give you a care plan and support for your child’s and family’s specific needs. Your child’s care team may include: Neuromuscular specialists, Neurodevelopmental pediatric specialists, Nurses, Physical therapists, Occupational therapists, Speech/language therapists, Genetic counselors, Nutritionists, Social workers, Education specialists, Orthopedics specialists, Orthotics/prosthetics specialists, Dentists, Pulmonary/Respiratory specialists, Gastroenterology specialists, Endocrinology/Bone Health specialists, Developmental psychologists, Research coordinators.

• #13 Spinal Muscular Atrophy (SMA) Types, Diagnosis, Treatment

  https://www.gillettechildrens.org/conditions-care/spinal-muscular-atrophy

  Spinal muscular atrophy, or SMA, is a rare genetic condition that affects the spinal cords motor nerve cells. The nerves affected by SMA dont have enough of an essential protein called SMN, so they cant carry signals from the brain to the muscles. Without those signals, muscles weaken and decrease in mass (atrophy). As a result, activities such as crawling, walking, breathing, and eating are difficult for children with SMA. […] If your child has spinal muscular atrophy, you can rely on specialized treatment from Gillette, one of the regions top neuromuscular programs. […] Regular checkups are essential for slowing the progression of symptoms and avoiding secondary complications. […] Patients who have SMA often see experts in these specialties and services at Gillette: Nursing […] Our Gillette team actively prescribes each of these medications for our patients who are interested in treatment. Once Gillette Children’s specialists diagnose your child, your family will get a customized treatment plan based on what is best for your child.

• #14 Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4293319/

  Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. […] At present there are no effective disease-modifying treatments for SMA. Regardless, precisely designed supportive, rehabilitative, and palliative care can partly reduce the disease burden and alter the natural history. Treatment is designed to address the primary and secondary effects of muscle weakness and should include management of pulmonary complications, nutritional and gastrointestinal support, orthopedic care, rehabilitative interventions, and end-of-life care. Standards of care for SMA are established, but there is need for improved and more specific directives in this regard. A multidisciplinary team with experience in the care of SMA patients is usually most effective for delivery of care.

• #15 About SMA for Healthcare Providers – Cure SMA

  https://www.curesma.org/about-sma-for-hcps/

  Spinal muscular atrophy (SMA) is a genetic, progressive neurodegenerative disease characterized by weakness of the skeletal and respiratory muscles. […] Proper care improves quality of life for those with SMA. They often have impaired cough, respiratory insufficiency, dysphagia, gastroparesis, constipation, and evolving orthopedic issues. […] In 2007, the Journal of Child Neurology published the Consensus Statement for the Standard of Care in SMA. […] A simple blood test can confirm whether an individual has a mutation that causes SMA. […] Respiratory problems are primary causes of illness and the most common cause of death for individuals with SMA Type 1 and 2. […] Patients with SMA are more susceptible to suffering from under- or over-nutrition, and this can have a significant impact. […] Muscle weakness in SMA will vary for each individual depending on the disease severity. […] It is important for families to plan for how to prevent emergencies.

• #16 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] For children and adults with SMA, it can be important to have regular assessments of growth. An expert nutritionist or registered dietitian may recommend an appropriate diet, monitoring other factors such as weight, fluid, and nutrition intake particularly calcium and vitamin D for bone health. […] Muscle weakness may cause some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. A healthcare provider may recommend a temporary or long-term feeding tube put into place to provide the necessary nutrition and hydration.

• #17 Spinal Muscular Atrophy (SMA) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/spinal-muscular-atrophy-sma

  Optimizing lung function and prevention and early treatment of lung infection are the main goals of respiratory management. […] A child with spinal muscular atrophy requires frequent medical evaluations throughout their lifespan. Your child’s healthcare team will work closely with your family on how to best care for your child at home.

• #18 Spinal muscular atrophy – Wikipedia

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

  Nusinersen (marketed as Spinraza) is used to treat spinal muscular atrophy. It is an antisense nucleotide that modifies the alternative splicing of the SMN2 gene. It is given directly to the central nervous system using an intrathecal injection. Nusinersen prolongs survival and improves motor function in infants with SMA. […] The respiratory system is the most common system to be affected and the complications are the leading cause of death in SMA types 0/1 and 2. […] The more severe the type of SMA, the more likely to have nutrition related health issues. Health issues can include difficulty in feeding, jaw opening, chewing and swallowing. […] Weak muscles that normally stabilize joints such as the vertebral column lead to development of kyphosis and/or scoliosis and joint contracture. […] Palliative care in SMA has been standardised in the Consensus Statement for Standard of Care in Spinal Muscular Atrophy which has been recommended for standard adoption worldwide.

• #19 Spinal Muscular Atrophy (SMA) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/sma.html

  breathing support through a mask/mouthpiece or a breathing machine. If a breathing machine is needed, a tube may be placed into the windpipe (called a tracheostomy). […] treatments to help kids cough and clear mucus, which can help prevent infections […] proper nutrition. Sometimes a feeding tube is placed through the nose into the stomach (an NG tube) or directly into the stomach (called a gastrostomy tube, or G-tube). This way, feedings can go right into the stomach. […] physical therapy and occupational therapy […] Research shows that kids with spinal muscular atrophy do best with a team approach to their care. Parents, doctors, nurses, therapists, counselors, and a dietitian are all important members of the team. This approach and recent medical advances have improved the outlook for kids with SMA.

• #20 SMA – Spinal Muscular Atrophy | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/spinal-muscular-atrophy-sma

  Our physical therapists can teach your child special range-of-motion exercises to keep muscles flexible and mobile. Night splints on ankles and wrist also may help prevent contractures or joint tightness. […] Children with type I and type II SMA typically are unable to stand or walk independently and require an electric wheelchair. Many children can safely operate a wheelchair by age 2 or 3. […] Children with SMA have a high risk of developing respiratory problems. Many respiratory support therapies are recommended to help prevent complications. Treatments may include: Breathing exercises. Breathing devices when breathing muscles don’t function properly. Devices such as „negative pressure” ventilators and external positive airway pressure support systems can help. Positive airway systems use a gently placed (but snug) mask, to deliver air directly to the nostrils.

• #21 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Lung care and breathing support […] Deformities of the spine, chest wall and hips can lead to less space for the lungs and make it harder to breathe. Weak muscles can affect how well your childs lungs work. […] Infections can become serious if weak breathing muscles make it hard for your child to cough effectively. Our goal is to prevent respiratory infections and treat them early. […] A device called a cough-assist machine can help your child get a deeper breath and then clear their airways. A respiratory therapist will set up the machine and teach you how to use it. […] Some children with SMA may need a machine to help with breathing (bilevel positive airway pressure or Bi-PAP). Some children start by using Bi-PAP only at night and increase its use over time. […] Diet and nutrition

• #22 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types. This has led to a substantial improvement in survival of infantile-onset SMA. […] Important advances in the treatment of SMA since 2007 include: Expansion of the use of non-invasive ventilation and cough machine support, Introduction of early spinal surgery, Greater emphasis on a multidisciplinary approach to care, Advent of clinical trials and new drug approvals in spinal muscular atrophy. […] Adopting a proactive approach to care can influence the trajectory of disease progression and improve the natural history of SMA. SMA is a neuromuscular disease that requires multidisciplinary medical care, and in some instances, a palliative approach. […] For children with SMA, a proactive approach may include earlier placement of a feeding tube, intensive respiratory support (e.g. non-invasive ventilation and cough assist machines), early spinal surgery and regular sessions of physical therapy.

• #23 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  For children with SMA, the use of non-invasive ventilation may help avoid hospitalisation and the need for tracheostomy. […] Nutritional support and feeding are critical considerations in caring for a child with SMA. Children with SMA may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and poor nutrition. Feeding tubes may be an option for children when there is concern about growth failure, insufficient caloric intake or the safety of oral feeding. […] Respiratory compromise is the major cause of morbidity and mortality in SMA. These children may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions. […] While some children receive multidisciplinary care from physicians in their community, others go to neuromuscular disease centres specialising in SMA. A dedicated multidisciplinary care team is the emerging paradigm at these centers.

• #24 About SMA for Healthcare Providers – Cure SMA

  https://www.curesma.org/about-sma-for-hcps/

  Spinal muscular atrophy (SMA) is a genetic, progressive neurodegenerative disease characterized by weakness of the skeletal and respiratory muscles. […] Proper care improves quality of life for those with SMA. They often have impaired cough, respiratory insufficiency, dysphagia, gastroparesis, constipation, and evolving orthopedic issues. […] In 2007, the Journal of Child Neurology published the Consensus Statement for the Standard of Care in SMA. […] A simple blood test can confirm whether an individual has a mutation that causes SMA. […] Respiratory problems are primary causes of illness and the most common cause of death for individuals with SMA Type 1 and 2. […] Patients with SMA are more susceptible to suffering from under- or over-nutrition, and this can have a significant impact. […] Muscle weakness in SMA will vary for each individual depending on the disease severity. […] It is important for families to plan for how to prevent emergencies.

• #25 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] For children and adults with SMA, it can be important to have regular assessments of growth. An expert nutritionist or registered dietitian may recommend an appropriate diet, monitoring other factors such as weight, fluid, and nutrition intake particularly calcium and vitamin D for bone health. […] Muscle weakness may cause some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. A healthcare provider may recommend a temporary or long-term feeding tube put into place to provide the necessary nutrition and hydration.

• #26 Spinal Muscular Atrophy (SMA): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/spinal-muscular-atrophy/

  A variety of assistive devices can improve quality of life for those with SMA. Standers, walkers and different kinds of powered and manual wheeled vehicles can help even very young children explore the world despite having weak muscles. […] SMA raises the risk of a number of health complications. Nutritional and gastrointestinal conditions can develop because of the weakness of core muscles. When SMA progresses to an advanced state, swallowing difficulties can make eating challenging. Nutritional and gastrointestinal issues may include malnutrition, constipation, delayed gastric emptying, and potentially life-threatening gastroesophageal reflux with aspiration. […] Respiratory and breathing problems also result from muscle weakness. People with advanced cases of SMA can have difficulty breathing or clearing their throat, raising a risk of pneumonia and respiratory failure. These complications are often the cause of death in people with SMA.

• #27 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] For children and adults with SMA, it can be important to have regular assessments of growth. An expert nutritionist or registered dietitian may recommend an appropriate diet, monitoring other factors such as weight, fluid, and nutrition intake particularly calcium and vitamin D for bone health. […] Muscle weakness may cause some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. A healthcare provider may recommend a temporary or long-term feeding tube put into place to provide the necessary nutrition and hydration.

• #28 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Problems with swallowing may make it hard for your child to get the nutrition they need. They may suck food or liquid into their airways (aspirating). If your child has trouble feeding or swallowing, our experts in Speech and Language Services will help them. […] A dietitian and others on your childs team will work with you and your child to: […] Make sure your child gets the nutrition they need for the best growth and development. […] Get the right amount of calories so they do not become overweight if they are less active. […] Adjust your childs diet, if needed, when they have a condition that affects the nutrition they need. […] Learn how to use a feeding tube if your child cannot chew and swallow safely. Options include a G (gastrostomy) tube or NG (nasogastric) tube. […] Support and social work

• #29 Spinal Muscular Atrophy | SMA | MedlinePlus

  https://medlineplus.gov/spinalmuscularatrophy.html

  Good nutrition and a balanced diet to help maintain weight and strength. Some people might need a feeding tube in order to get the nutrition they need. […] Breathing support for people who have muscle weakness in the neck, throat, and chest. The support may include devices to help with breathing during the day and to prevent sleep apnea at night. Some people might need to be on a ventilator.

• #30 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  For children with SMA, the use of non-invasive ventilation may help avoid hospitalisation and the need for tracheostomy. […] Nutritional support and feeding are critical considerations in caring for a child with SMA. Children with SMA may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and poor nutrition. Feeding tubes may be an option for children when there is concern about growth failure, insufficient caloric intake or the safety of oral feeding. […] Respiratory compromise is the major cause of morbidity and mortality in SMA. These children may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions. […] While some children receive multidisciplinary care from physicians in their community, others go to neuromuscular disease centres specialising in SMA. A dedicated multidisciplinary care team is the emerging paradigm at these centers.

• #31 Spinal Muscular Atrophy (SMA) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/sma.html

  breathing support through a mask/mouthpiece or a breathing machine. If a breathing machine is needed, a tube may be placed into the windpipe (called a tracheostomy). […] treatments to help kids cough and clear mucus, which can help prevent infections […] proper nutrition. Sometimes a feeding tube is placed through the nose into the stomach (an NG tube) or directly into the stomach (called a gastrostomy tube, or G-tube). This way, feedings can go right into the stomach. […] physical therapy and occupational therapy […] Research shows that kids with spinal muscular atrophy do best with a team approach to their care. Parents, doctors, nurses, therapists, counselors, and a dietitian are all important members of the team. This approach and recent medical advances have improved the outlook for kids with SMA.

• #32 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  For children with SMA, the use of non-invasive ventilation may help avoid hospitalisation and the need for tracheostomy. […] Nutritional support and feeding are critical considerations in caring for a child with SMA. Children with SMA may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and poor nutrition. Feeding tubes may be an option for children when there is concern about growth failure, insufficient caloric intake or the safety of oral feeding. […] Respiratory compromise is the major cause of morbidity and mortality in SMA. These children may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions. […] While some children receive multidisciplinary care from physicians in their community, others go to neuromuscular disease centres specialising in SMA. A dedicated multidisciplinary care team is the emerging paradigm at these centers.

• #33 Caring for a Child with Spinal Muscular Atrophy – Care Options for Kids

  https://careoptionsforkids.com/blog/caring-for-child-with-spinal-muscular-atrophy

  If your child has been diagnosed with spinal muscular atrophy, you may still be trying to process the information and what it all means, while at the same time looking for ways of making your babys life as comfortable as possible. […] Which type of treatment a child will need depends on the type and severity of SMA. The most common forms include: […] Being unable to breathe is the main cause of death for children with severe SMA. Therefore, before taking your child home from the hospital, learn how to clean their airways and learn it well enough so that you can teach it to family members who may assist you with caregiving. […] Since some types of spinal muscular atrophy make it difficult to swallow, children with SMA have a difficult time gaining and maintaining a healthy weight. If this is the case with your child, its crucial to design a nutritional plan that works best for them and that all caregivers are familiar with.

• #34 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Scoliosis (curvature of the spine) is a common problem found in individuals with spinal muscular atrophy due to muscle weakness. An orthopedist may recommend postural support (bracing) or surgery for scoliosis. […] Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion. This can put them at risk of developing contractures, or tightness of the muscles, which can become permanent and prevent movement. A proactive approach, including regular sessions of physical therapy, may help influence the progression of SMA. […] The current guidelines of care for individuals with spinal muscular atrophy suggest that care is best accomplished with the help of many specialists and primary care providers. […] Neurologists are often the first doctors to meet with individuals suspected of having SMA, and should coordinate the multidisciplinary care team as needed.

• #35 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  Scoliosis (curvature of the spine) is a problem in patients with spinal muscular atrophy due to muscle weakness. An orthopaedist may recommend postural support (bracing) or surgery for scoliosis. […] Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion, which can put them at risk of developing contractures, or tightness of the muscles. This can become permanent and prevent movement. Physical therapy may consist of exercises and stretching techniques to help improve flexibility and overall function.

• #36 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Leg braces to help your child stand and move on their own. […] Braces to support their wrists or hands. […] Back brace to keep a spinal curve from getting worse. […] Devices that help your child sit up, stand, walk or get around. Options include a seating system, walker, standing frame, wheelchair, power wheelchair and motorized scooter. […] Orthopedic surgery […] Over time, muscle weakness may cause problems like: […] Curved spine (scoliosis or kyphosis) […] Hip joints that dont develop normally or that become dislocated […] Brittle bones that break easily […] Orthopedic surgery to treat severe scoliosis or kyphosis can help your child sit up, sleep more comfortably or breathe more easily. Surgeons can implant growing rods in children as young as 5 (before their spine has finished growing) to help them keep an upright posture.

• #37 Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4293319/

  Establishing a therapeutic relationship with an experienced pulmonary specialist familiar with management of SMA is critical and should occur at the time of initial diagnosis, because pulmonary-related complications are a major source of morbidity and mortality in SMA. Respiratory issues include weak cough with poor clearance of lower airway secretions and hypoventilation. […] Gastrointestinal complications are very common in SMA patients but they have received surprisingly little formal research attention. These complications can cause primary and secondary morbidity and can increase the risk of aspiration and pneumonia. […] Weakness and impaired mobility, the central features of SMA, predispose to numerous musculoskeletal issues. Early recognition and appropriate management is helpful in maintaining function, preventing deterioration in vital capacity, and improving quality of life.

• #38 Spinal muscular atrophy (SMA) – NHS

  https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/

  There is currently no cure for spinal muscular atrophy (SMA), but there are treatments and support available to help people with SMA have the best possible quality of life. […] A range of health professionals may be involved in your or your child’s care. They’ll help to create a care plan and advise you about which treatments are suitable for your specific needs. […] Treatment and support is also available for the symptoms of SMA. Every person’s needs will be different depending on their symptoms. […] Support you or your child might need may include: physiotherapy, exercises and stretches to help maintain strength and stop joints becoming stiff; mobility equipment (including walking frames and wheelchairs), supports for the arms or legs (splints or braces) or shoe inserts that make walking easier (orthotics); help with breathing problems, such as breathing exercises or machines that help clear mucus from the airways or provide air through a mask; help with swallowing problems, such as making diet changes or using a feeding tube that’s passed down the nose or attached directly through the tummy; a back brace or surgery to help with spine problems.

• #39 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Leg braces to help your child stand and move on their own. […] Braces to support their wrists or hands. […] Back brace to keep a spinal curve from getting worse. […] Devices that help your child sit up, stand, walk or get around. Options include a seating system, walker, standing frame, wheelchair, power wheelchair and motorized scooter. […] Orthopedic surgery […] Over time, muscle weakness may cause problems like: […] Curved spine (scoliosis or kyphosis) […] Hip joints that dont develop normally or that become dislocated […] Brittle bones that break easily […] Orthopedic surgery to treat severe scoliosis or kyphosis can help your child sit up, sleep more comfortably or breathe more easily. Surgeons can implant growing rods in children as young as 5 (before their spine has finished growing) to help them keep an upright posture.

• #40 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Scoliosis (curvature of the spine) is a common problem found in individuals with spinal muscular atrophy due to muscle weakness. An orthopedist may recommend postural support (bracing) or surgery for scoliosis. […] Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion. This can put them at risk of developing contractures, or tightness of the muscles, which can become permanent and prevent movement. A proactive approach, including regular sessions of physical therapy, may help influence the progression of SMA. […] The current guidelines of care for individuals with spinal muscular atrophy suggest that care is best accomplished with the help of many specialists and primary care providers. […] Neurologists are often the first doctors to meet with individuals suspected of having SMA, and should coordinate the multidisciplinary care team as needed.

• #41 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  Scoliosis (curvature of the spine) is a problem in patients with spinal muscular atrophy due to muscle weakness. An orthopaedist may recommend postural support (bracing) or surgery for scoliosis. […] Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion, which can put them at risk of developing contractures, or tightness of the muscles. This can become permanent and prevent movement. Physical therapy may consist of exercises and stretching techniques to help improve flexibility and overall function.

• #42 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists help children and adults with SMA develop muscle strength. They help them achieve the ability to move and function at the highest level possible. Physical therapy treatment helps people with SMA reach the highest level of independence and mobility possible. It also can help to prevent or delay related problems. Physical therapists work closely with children and adults with SMA and their families to develop treatment programs for their specific needs. […] Physical therapy treatment for people with SMA may include activities to maintain and improve overall movement and function. This includes improving developmental skills in infants and children such as head and trunk control, rolling, crawling, sitting, and changing positions. […] Physical therapists help you learn specific flexibility and range-of-motion exercises and positioning. They also may recommend splints, braces, standing devices, or serial casting (to reshape deformed limbs or joints).

• #43 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Pulmonologists monitor an individuals ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialized equipment to support. […] Nutrition is important for individuals with spinal muscular atrophy in order to promote growth and motor function. […] Orthopedists specialize in the surgical and nonsurgical treatment of conditions of the bones, joints, and soft tissue. […] Stretching and strength training is an important component of the preventive care approach for spinal muscular atrophy. Physical therapists may evaluate an individuals range of motion, muscle strength, and mobility. […] Genetic counselors can provide information on the consequences and genetic background of spinal muscular atrophy. […] While a physical therapist can assist with increasing overall mobility through exercise and assistive devices, an occupational therapist helps individuals increase their independence in specific everyday tasks like dressing, bathing, or handling utensils.

• #44 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. Theres no cure for SMA, but certain therapies and medications can help manage symptoms. […] SMA involves the loss of a specific type of nerve cell in your spinal cord called lower motor neurons, or anterior horn cells. These cells control muscle movement. Without these motor neurons, muscles dont receive the nerve signals that make them move. […] Treatment for SMA mainly seeks to manage symptoms and prevent complications. Symptom management therapies may include: Physical therapy, which can help improve posture, prevent joint immobility and slow muscle weakness. Occupational therapy, which can improve your ability to perform daily tasks. Assistive devices, like orthopaedic braces, crutches, walkers and wheelchairs. Therapy for speech and swallowing difficulties. A feeding tube if swallowing is too difficult and/or dangerous. Assisted ventilation for breathing issues. […] Unfortunately, there isnt a cure for SMA. […] If your child has SMA, its important to advocate for them to ensure they get the best medical care and as much access to therapy as possible. Advocating for care can help them have the best possible quality of life.

• #45 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists help children and adults with SMA develop muscle strength. They help them achieve the ability to move and function at the highest level possible. Physical therapy treatment helps people with SMA reach the highest level of independence and mobility possible. It also can help to prevent or delay related problems. Physical therapists work closely with children and adults with SMA and their families to develop treatment programs for their specific needs. […] Physical therapy treatment for people with SMA may include activities to maintain and improve overall movement and function. This includes improving developmental skills in infants and children such as head and trunk control, rolling, crawling, sitting, and changing positions. […] Physical therapists help you learn specific flexibility and range-of-motion exercises and positioning. They also may recommend splints, braces, standing devices, or serial casting (to reshape deformed limbs or joints).

• #46 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists work with people to help keep the spine and body supported and aligned during daily activities. They design treatment programs and may use braces or supportive seating to help people with SMA maintain good posture and protect their bones and joints. […] Respiratory exercise training is essential for people with SMA to prevent breathing problems. […] Physical therapists work with other specialists to select and modify suitable devices to meet each person’s specific needs. […] Physical therapists select the right type and intensity of exercises to help people with SMA move and stay as active as possible. […] Physical therapists help people who cannot stand on their own get any equipment needed to start a daily standing program for home or school. […] Physical therapists work closely with speech and occupational therapists to promote healthy feeding. […] Your child’s physical therapist will choose exercises, games, and fun tasks that will be taught during therapy. […] Early treatment with medicines and physical therapy at or shortly after diagnosis may greatly change the course of the disease and improve outcomes.

• #47 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists work with people to help keep the spine and body supported and aligned during daily activities. They design treatment programs and may use braces or supportive seating to help people with SMA maintain good posture and protect their bones and joints. […] Respiratory exercise training is essential for people with SMA to prevent breathing problems. […] Physical therapists work with other specialists to select and modify suitable devices to meet each person’s specific needs. […] Physical therapists select the right type and intensity of exercises to help people with SMA move and stay as active as possible. […] Physical therapists help people who cannot stand on their own get any equipment needed to start a daily standing program for home or school. […] Physical therapists work closely with speech and occupational therapists to promote healthy feeding. […] Your child’s physical therapist will choose exercises, games, and fun tasks that will be taught during therapy. […] Early treatment with medicines and physical therapy at or shortly after diagnosis may greatly change the course of the disease and improve outcomes.

• #48 Spinal Muscular Atrophy Care Team

  https://www.healthline.com/health/spinal-muscular-atrophy/navigating-sma/care-team

  A pediatric neurologist will often be the first specialist to meet with you and your child. To reach a diagnosis, they will perform a neurological exam and nerve conduction studies. They will also devise a treatment program specifically for your child and make referrals when appropriate. […] Your child will meet with a physical therapist regularly throughout their life. A physical therapist will aid with a range of motion exercises, stretching, fitting orthotics and braces, weight-bearing exercises, aquatic (pool) therapy, breathing exercises to strengthen the respiratory muscles, making recommendations for other equipment, and suggesting and teaching activities that you can try with your child at home. […] An occupational therapist focuses on day-to-day activities, such as eating, dressing, and grooming. They may recommend equipment to help your child build their skills for these activities.

• #49 Spinal Muscular Atrophy (SMA) Care

  https://www.togetherinsma.com/en_us/home/sma-care/care-options.html

  Pulmonologists monitor an individuals ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialized equipment to support. […] Nutrition is important for individuals with spinal muscular atrophy in order to promote growth and motor function. […] Orthopedists specialize in the surgical and nonsurgical treatment of conditions of the bones, joints, and soft tissue. […] Stretching and strength training is an important component of the preventive care approach for spinal muscular atrophy. Physical therapists may evaluate an individuals range of motion, muscle strength, and mobility. […] Genetic counselors can provide information on the consequences and genetic background of spinal muscular atrophy. […] While a physical therapist can assist with increasing overall mobility through exercise and assistive devices, an occupational therapist helps individuals increase their independence in specific everyday tasks like dressing, bathing, or handling utensils.

• #50 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. Theres no cure for SMA, but certain therapies and medications can help manage symptoms. […] SMA involves the loss of a specific type of nerve cell in your spinal cord called lower motor neurons, or anterior horn cells. These cells control muscle movement. Without these motor neurons, muscles dont receive the nerve signals that make them move. […] Treatment for SMA mainly seeks to manage symptoms and prevent complications. Symptom management therapies may include: Physical therapy, which can help improve posture, prevent joint immobility and slow muscle weakness. Occupational therapy, which can improve your ability to perform daily tasks. Assistive devices, like orthopaedic braces, crutches, walkers and wheelchairs. Therapy for speech and swallowing difficulties. A feeding tube if swallowing is too difficult and/or dangerous. Assisted ventilation for breathing issues. […] Unfortunately, there isnt a cure for SMA. […] If your child has SMA, its important to advocate for them to ensure they get the best medical care and as much access to therapy as possible. Advocating for care can help them have the best possible quality of life.

• #51 Spinal Muscular Atrophy (SMA): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/spinal-muscular-atrophy/

  Most types of SMA are caused by mutations in a gene known as SMN1 (survival motor neuron 1) thats located on chromosome 5. This mutation causes the death or dysfunction of the nerves that control voluntary muscle movement. Symptoms can appear before birth or as late as adulthood. The earlier SMA symptoms appear, the more severe it is. […] SMA causes muscle weakening that can lead to significant disabilities. […] There is no cure for SMA, but treatment and medication can improve the quality of life and outlook for people of all ages with the condition. […] Children with SMA may have difficulty performing daily tasks. Occupational therapy can help improve daily living as well as time at school and work by teaching people with SMA how to improve their ability to perform chores, prevent complications, and conserve energy. Physical therapy can help improve posture, keep joints flexible, and generally slow the progression of muscle atrophy.

• #52 Spinal Muscular Atrophy (SMA): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/spinal-muscular-atrophy/

  A variety of assistive devices can improve quality of life for those with SMA. Standers, walkers and different kinds of powered and manual wheeled vehicles can help even very young children explore the world despite having weak muscles. […] SMA raises the risk of a number of health complications. Nutritional and gastrointestinal conditions can develop because of the weakness of core muscles. When SMA progresses to an advanced state, swallowing difficulties can make eating challenging. Nutritional and gastrointestinal issues may include malnutrition, constipation, delayed gastric emptying, and potentially life-threatening gastroesophageal reflux with aspiration. […] Respiratory and breathing problems also result from muscle weakness. People with advanced cases of SMA can have difficulty breathing or clearing their throat, raising a risk of pneumonia and respiratory failure. These complications are often the cause of death in people with SMA.

• #53 Spinal muscular atrophy (SMA) – NHS

  https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/

  There is currently no cure for spinal muscular atrophy (SMA), but there are treatments and support available to help people with SMA have the best possible quality of life. […] A range of health professionals may be involved in your or your child’s care. They’ll help to create a care plan and advise you about which treatments are suitable for your specific needs. […] Treatment and support is also available for the symptoms of SMA. Every person’s needs will be different depending on their symptoms. […] Support you or your child might need may include: physiotherapy, exercises and stretches to help maintain strength and stop joints becoming stiff; mobility equipment (including walking frames and wheelchairs), supports for the arms or legs (splints or braces) or shoe inserts that make walking easier (orthotics); help with breathing problems, such as breathing exercises or machines that help clear mucus from the airways or provide air through a mask; help with swallowing problems, such as making diet changes or using a feeding tube that’s passed down the nose or attached directly through the tummy; a back brace or surgery to help with spine problems.

• #54 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Starting therapy soon after diagnosis is key to the best outcomes for your child. Medicines for SMA help slow down or even stop the progression of SMA. In addition, your childs care team watches for problems related to SMA and helps prevent or manage them. As needed, your child may have physical therapy, occupational therapy, bracing devices, orthopedic surgery and breathing support. Your child may be able to take part in research studies of new ways to treat SMA. […] Physical therapy and assistive devices […] To support your childs ability to move and do the things they want to, your child may have: […] Physical therapy (PT) for range of motion and flexibility. We also assess if equipment may help your child move around. […] Occupational therapy (OT) to help your child with activities like dressing and using a computer.

• #55 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists work with people to help keep the spine and body supported and aligned during daily activities. They design treatment programs and may use braces or supportive seating to help people with SMA maintain good posture and protect their bones and joints. […] Respiratory exercise training is essential for people with SMA to prevent breathing problems. […] Physical therapists work with other specialists to select and modify suitable devices to meet each person’s specific needs. […] Physical therapists select the right type and intensity of exercises to help people with SMA move and stay as active as possible. […] Physical therapists help people who cannot stand on their own get any equipment needed to start a daily standing program for home or school. […] Physical therapists work closely with speech and occupational therapists to promote healthy feeding. […] Your child’s physical therapist will choose exercises, games, and fun tasks that will be taught during therapy. […] Early treatment with medicines and physical therapy at or shortly after diagnosis may greatly change the course of the disease and improve outcomes.

• #56 Spinal Muscular Atrophy Treatment – Cure SMA

  https://www.curesma.org/spinal-muscular-atrophy-treatment/

  Regardless of what type of treatment is selected, it is important that individuals with SMA begin therapy as soon after diagnosis as possible. […] Beginning therapy as early as possible is the only way to prevent or slow down motor neuron loss. […] Currently, three SMN-enhancing (SMA) spinal muscular atrophy treatments are approved by the U.S. Food and Drug Administration (FDA).

• #57 Spinal Muscular Atrophy

  https://patienteducation.asgct.org/disease-treatments/sma

  Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the motor nerve cells in the spinal cord and is the leading genetic cause of infant mortality. […] Gene therapy is a fitting approach for diseases caused by a single gene mutation, like SMA. […] There are a few approved gene therapy treatment options available that can help manage symptoms of SMA, along with slowing or stopping disease progression. […] For clinical trials treating SMA type 1, researchers described improvements in respiratory and movement function meaning patients were able to breathe better, feed themselves, and sit unassisted. […] Theres an FDA-approved treatment called Spinraza that helps to counter the effects of SMA. […] The aim for SMA gene therapy is to only need one administration by targeting the cause of the disease.

• #58 Spinal muscular atrophy – Wikipedia

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

  Nusinersen (marketed as Spinraza) is used to treat spinal muscular atrophy. It is an antisense nucleotide that modifies the alternative splicing of the SMN2 gene. It is given directly to the central nervous system using an intrathecal injection. Nusinersen prolongs survival and improves motor function in infants with SMA. […] The respiratory system is the most common system to be affected and the complications are the leading cause of death in SMA types 0/1 and 2. […] The more severe the type of SMA, the more likely to have nutrition related health issues. Health issues can include difficulty in feeding, jaw opening, chewing and swallowing. […] Weak muscles that normally stabilize joints such as the vertebral column lead to development of kyphosis and/or scoliosis and joint contracture. […] Palliative care in SMA has been standardised in the Consensus Statement for Standard of Care in Spinal Muscular Atrophy which has been recommended for standard adoption worldwide.

• #59 Spinal Muscular Atrophy | Pediatric Neurology | University Hospitals | Cleveland, OH | University Hospitals

  https://www.uhhospitals.org/rainbow/services/pediatric-neurology/conditions-and-treatments/spinal-muscular-atrophy

  Gene therapy can be a fitting treatment for diseases caused by a single gene mutation, like SMA. […] In December 2016, the FDA approved the first prescription drug for the treatment of adults and children with spinal muscular atrophy. […] In May 2019, the FDA approved the second drug, Zolgensma (Onasemnogene abeparvovec), which is a viral vector gene replacement therapy. […] In May 2022, the FDA approved a third drug to treat SMA in children 2 months and older.

• #60 Spinal muscular atrophy | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/spinal-muscular-atrophy/

  In addition to the treatments for SMA symptoms, medications are now available that have been shown to improve motor development in individuals with the condition. These medications, known as nusinersen (market name Spinraza®), onasemnogene abeparvovec (market name Zolgensma®), and risdiplam (market name Evrysdi®), have been approved in the United States for use in patients with SMA.

• #61 Spinal Muscular Atrophy Treatment – Cure SMA

  https://www.curesma.org/spinal-muscular-atrophy-treatment/

  Regardless of what type of treatment is selected, it is important that individuals with SMA begin therapy as soon after diagnosis as possible. […] Beginning therapy as early as possible is the only way to prevent or slow down motor neuron loss. […] Currently, three SMN-enhancing (SMA) spinal muscular atrophy treatments are approved by the U.S. Food and Drug Administration (FDA).

• #62 Spinal Muscular Atrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) is a group of inherited conditions that affect the motor neurons of the spinal cord. […] Early detection and treatment of SMA is important since studies suggest that therapy is most effective when started in the first few months of life. […] Because early testing and treatment of spinal muscular atrophy (SMA) may improve quality of life and slow disease progression, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition. […] Although there is currently no cure for spinal muscular atrophy (SMA), treatments are available to manage associated symptoms and improve quality of life. […] Regardless of what type of treatment is chosen, it is important that individuals with SMA begin therapy as soon after diagnosis as possible. Early treatment is the only way to prevent motor neuron loss.

• #63 Spinal Muscular Atrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/spinal-muscular-atrophy

  Other treatments aim to address the signs and symptoms of the condition. […] The long-term outlook for children and adults with spinal muscular atrophy (SMA) varies significantly based on the form, the symptoms present, and the response to treatment. […] Studies suggest that therapy for SMA is most effective when started in the first few months of life before significant loss of motor neurons occurs. […] Support groups can help connect families who have a child or other family member affected with spinal muscular atrophy with a supportive community of people who have experience and expertise in living with the condition. […] Work with your baby’s health care provider to determine the next steps for your baby’s care. […] Because SMA is a genetic condition, you may want to talk with a genetics specialist. […] Many families living with spinal muscular atrophy share their experience with disease progression and day to day life on the Learn About Spinal Muscular Atrophy website.

• #64 Spinal muscular atrophy (SMA) in children – Children’s Health Neurology

  https://www.childrens.com/specialties-services/conditions/spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a neurodegenerative disease with symptoms that will continue and usually get worse over time. Early treatment can help slow development of the symptoms. […] Our team also is very active in research to help children with this condition. […] When a child has SMA, it means specialized cells in their spinal cord dont work correctly. They dont have enough of a protein called survival motor neuron (SMN). […] This condition can affect a childs ability to crawl, walk, breathe and swallow. Children with SMA have poor muscle tone and muscle weakness. […] SMA can vary widely in terms of the age when it starts, the symptoms children have and how quickly the disease progresses. The earlier SMA starts, the more it affects muscle movement. […] We typically treat spinal muscular atrophy with therapies that help the body produce more of the SMN protein. Having more SMN protein can slow the development of symptoms, helping a child walk, sit or swallow more easily especially if treatment is started very early.

• #65 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  The purpose of palliative care is to improve the quality of life for individuals with life-threatening illnesses, though this does not mean that they are near death. According to the World Health Organization (WHO), palliative care is best accomplished by a multidisciplinary team that includes the family. […] There are many aspects to care as every individual will experience symptoms differently and the level of care provided must be decided by a physician. This can change depending on circumstances and the goal of the supportive care. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] Muscle weakness may lead to some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections.

• #66 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  The purpose of palliative care is to improve the quality of life for individuals with life-threatening illnesses, though this does not mean that they are near death. According to the World Health Organization (WHO), palliative care is best accomplished by a multidisciplinary team that includes the family. […] There are many aspects to care as every individual will experience symptoms differently and the level of care provided must be decided by a physician. This can change depending on circumstances and the goal of the supportive care. […] Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. […] Muscle weakness may lead to some individuals with SMA to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections.

• #67 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Your emotional health is just as important as your physical health. Living with SMA can be challenging. A provider who works with adults can help spot signs of depression or anxiety, talk about whether therapy or medication may help, and refer you to a mental health provider if you need one. […] Even though it hasn’t always been easy for adults with SMA to get care, the situation is improving. New treatments are being approved, and research is moving forward. As these treatments become available, more people are likely to get the help they need.

• #68

  https://www.nursingcenter.com/static?pageid=1021693

  Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by the progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of voluntary muscles. […] The experience of living with SMA was described as challenging and constantly changing. […] Participants described both physical and emotional strategies for symptom management. […] Participants indicated that having a supportive and caring family made living with SMA more bearable. […] Participants also described the importance of close friendships and positive relationships with coworkers. […] In describing the experience of living with SMA, participants talked about making an effort to normalize and mainstream within society. […] Participants described successful living as requiring creativity and an innovative approach to managing symptoms.

• #69

  https://www.nursingcenter.com/static?pageid=1021693

  Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by the progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of voluntary muscles. […] The experience of living with SMA was described as challenging and constantly changing. […] Participants described both physical and emotional strategies for symptom management. […] Participants indicated that having a supportive and caring family made living with SMA more bearable. […] Participants also described the importance of close friendships and positive relationships with coworkers. […] In describing the experience of living with SMA, participants talked about making an effort to normalize and mainstream within society. […] Participants described successful living as requiring creativity and an innovative approach to managing symptoms.

• #70 Spinal Muscular Atrophy in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/spinal-muscular-atrophy-children

  Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by certain genes. It affects the motor neurons in the spinal cord. It causes muscle wasting and weakness. […] SMA has no cure. One new treatment can result in improved motor function. The other goals of treatment are to treat breathing and nutrition problems. […] The healthcare team will talk with you about how to best care for your child at home. […] Children with SMA need regular visits with their healthcare providers. […] Care for you and your family is also very important. Connect with support groups for help. Organizations, such as the Spinal Muscular Atrophy Foundation, can offer emotional support and helpful information to you and your family. Get counseling for yourself and family members to help deal with the ongoing stress.

• #71 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) mainly affects children, but adults can have it, too about 35 percent of all people with SMA are over 18. Adults with SMA may find it hard to get the specialized medical attention they need because most SMA treatments and support systems are focused on children. […] According to the nonprofit advocacy group Cure SMA, the care plan for SMA looks a little different for adults than it does for children. Adults are more involved in decision-making and more likely to have medical problems involving multiple body systems. Doctors recommend having a care team with one main provider who helps manage everything from medications and physical therapy to care from specialists like lung, muscle, stomach, and bone doctors. […] Whether or not you take SMA medication, staying connected to your care team can help you stay healthier. An adult healthcare provider can help coordinate physical therapy or connect you with the right specialists.

• #72 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) mainly affects children, but adults can have it, too about 35 percent of all people with SMA are over 18. Adults with SMA may find it hard to get the specialized medical attention they need because most SMA treatments and support systems are focused on children. […] According to the nonprofit advocacy group Cure SMA, the care plan for SMA looks a little different for adults than it does for children. Adults are more involved in decision-making and more likely to have medical problems involving multiple body systems. Doctors recommend having a care team with one main provider who helps manage everything from medications and physical therapy to care from specialists like lung, muscle, stomach, and bone doctors. […] Whether or not you take SMA medication, staying connected to your care team can help you stay healthier. An adult healthcare provider can help coordinate physical therapy or connect you with the right specialists.

• #73 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) mainly affects children, but adults can have it, too about 35 percent of all people with SMA are over 18. Adults with SMA may find it hard to get the specialized medical attention they need because most SMA treatments and support systems are focused on children. […] According to the nonprofit advocacy group Cure SMA, the care plan for SMA looks a little different for adults than it does for children. Adults are more involved in decision-making and more likely to have medical problems involving multiple body systems. Doctors recommend having a care team with one main provider who helps manage everything from medications and physical therapy to care from specialists like lung, muscle, stomach, and bone doctors. […] Whether or not you take SMA medication, staying connected to your care team can help you stay healthier. An adult healthcare provider can help coordinate physical therapy or connect you with the right specialists.

• #74 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) mainly affects children, but adults can have it, too about 35 percent of all people with SMA are over 18. Adults with SMA may find it hard to get the specialized medical attention they need because most SMA treatments and support systems are focused on children. […] According to the nonprofit advocacy group Cure SMA, the care plan for SMA looks a little different for adults than it does for children. Adults are more involved in decision-making and more likely to have medical problems involving multiple body systems. Doctors recommend having a care team with one main provider who helps manage everything from medications and physical therapy to care from specialists like lung, muscle, stomach, and bone doctors. […] Whether or not you take SMA medication, staying connected to your care team can help you stay healthier. An adult healthcare provider can help coordinate physical therapy or connect you with the right specialists.

• #75 SMA Treatment for Children vs. Adults: 5 Key Differences | mySMAteam

  https://www.mysmateam.com/resources/benefits-of-treatment-for-later-onset-spinal-muscular-atrophy-sma

  Your emotional health is just as important as your physical health. Living with SMA can be challenging. A provider who works with adults can help spot signs of depression or anxiety, talk about whether therapy or medication may help, and refer you to a mental health provider if you need one. […] Even though it hasn’t always been easy for adults with SMA to get care, the situation is improving. New treatments are being approved, and research is moving forward. As these treatments become available, more people are likely to get the help they need.

• #76 Spinal Muscular Atrophy (SMA): Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/orthopedics/spinal-muscular-atrophy-sma/treatment

  Symptoms of spinal muscular atrophy (SMA) may be similar to other serious conditions such as muscular dystrophy. […] There is no cure for spinal muscular atrophy. There are, however, three FDA-approved medications that slow the progression of disease. […] In addition, your child’s medical team may recommend these additional therapies and treatments for SMA to improve quality of life: Physical and occupational therapy. These help to improve posture, prevent joints from stiffening, and slow muscle weakness and shrinkage. Some patients also need speech or feeding therapy to help with problems swallowing. […] It’s important to know the symptoms of spinal muscular atrophy so that you can seek prompt care for your child. The Neuromuscular Disorders Center at NewYork-Presbyterian Morgan Stanley Children’s Hospital provides comprehensive care for children with spinal muscular atrophy (SMA). We have a dedicated SMA Clinic, supported by the SMA Foundation, which provides all the care children with SMA and other neuromuscular disorders may need.

• #77 Spinal Muscular Atrophy (SMA) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/sma.html

  Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). […] All types need ongoing treatment by a medical care team. There’s no cure for SMA, but treatments can help children who have it live a better life. […] When they think a child might have spinal muscular atrophy, doctors will order genetic testing to look for mutations in the SMN1 gene. […] Newborn screening is important the earlier spinal muscular atrophy is diagnosed, the better the chances for the child to get early treatment and possibly avoid serious problems. […] There’s no cure for SMA, but a few treatment options are available. What doctors use depends on a child’s age and how severe the symptoms are. […] Treatment options include: […] Supportive care:

• #78 Spinal Muscular Atrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) is a group of inherited conditions that affect the motor neurons of the spinal cord. […] Early detection and treatment of SMA is important since studies suggest that therapy is most effective when started in the first few months of life. […] Because early testing and treatment of spinal muscular atrophy (SMA) may improve quality of life and slow disease progression, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition. […] Although there is currently no cure for spinal muscular atrophy (SMA), treatments are available to manage associated symptoms and improve quality of life. […] Regardless of what type of treatment is chosen, it is important that individuals with SMA begin therapy as soon after diagnosis as possible. Early treatment is the only way to prevent motor neuron loss.

• #79 Spinal Muscular Atrophy | UK Healthcare

  https://ukhealthcare.uky.edu/kentucky-neuroscience-institute/conditions/child-neurology/spinal-muscular-atrophy

  We understand that receiving a diagnosis of spinal muscular atrophy (SMA) for your child can be overwhelming and frightening. At UK HealthCare, we want to assure you that there is hope, and we are here to support you and your child on this journey. UK HealthCare provides outstanding, advanced care for infants and children with SMA in Kentucky. […] UK HealthCare has a dedicated team of specialists with extensive experience in managing SMA. We understand the unique needs of each child and family, and we will work closely with you to develop a comprehensive care plan that provides the best possible outcomes for your child. […] Early treatment is crucial for the best possible outcomes in children with SMA. Untreated children with type I and type II SMA can have a decreased life expectancy. Untreated children with type I often die within the first two years of life. It’s important to understand the different types of SMA and seek prompt evaluation and treatment if any signs of muscle weakness are noticed.

• #80 Spinal Muscular Atrophy | UK Healthcare

  https://ukhealthcare.uky.edu/kentucky-neuroscience-institute/conditions/child-neurology/spinal-muscular-atrophy

  We understand that receiving a diagnosis of spinal muscular atrophy (SMA) for your child can be overwhelming and frightening. At UK HealthCare, we want to assure you that there is hope, and we are here to support you and your child on this journey. UK HealthCare provides outstanding, advanced care for infants and children with SMA in Kentucky. […] UK HealthCare has a dedicated team of specialists with extensive experience in managing SMA. We understand the unique needs of each child and family, and we will work closely with you to develop a comprehensive care plan that provides the best possible outcomes for your child. […] Early treatment is crucial for the best possible outcomes in children with SMA. Untreated children with type I and type II SMA can have a decreased life expectancy. Untreated children with type I often die within the first two years of life. It’s important to understand the different types of SMA and seek prompt evaluation and treatment if any signs of muscle weakness are noticed.

• #81 SMA Care – TREAT-NMD

  https://www.treat-nmd.org/resources-and-support/care-guides/sma-care/

  The clinical spectrum of Spinal Muscular Atrophy (SMA) means patients often require comprehensive, multi-disciplinary medical care. In December 2016, the first treatment for SMA, Spinraza (Nusinersen), was approved in the USA. Though this is a significant step it is acknowledged such treatments are not a cure. Treatments must be provided alongside the best possible supportive care and management in order to improve life expectancy and quality of life. […] Following the ENMC workshop the multidisciplinary committee of international experts worked to provide a two part updated Standards of care, the work was led by Professors Richard Finkel (USA) and Eugenio Mercuri (Europe) and published in neuromuscular disorders in 2017. […] The guide has currently been translated into 10 different languages: […] We are sure the community will find it a valuable resource to ensure the very latest in medical care standards are accessible to all people living with SMA.

• #82 Neuromuscular Notes: Spinal Muscular Atrophy

  https://practicalneurology.com/diseases-diagnoses/child-neurology/neuromuscular-notes-spinal-muscular-atrophy/31879/

  Dramatic advances have revolutionized the care and disease course of spinal muscular atrophy, with hope for an eventual cure. […] People with SMA require multidisciplinary care including physical therapy, occupational therapy, rehabilitation, and orthopedic, nutritional, and pulmonary support. The focus of physical therapy, occupational therapy, and rehabilitation is to use exercise regimens and orthotic devices to optimize motor function. […] Advances in multidisciplinary care over the past several decades improved motor function and extended life expectancies, but new medical therapies approved by the FDA since 2016 have created dramatic breakthroughs for caring for people with SMA. […] The care of patients with SMA has advanced dramatically over the last 30 years, changing the expected course of the disease when new therapies are applied.

• #83 Managing SMA

  https://care.togetherinsma.eu/en/home/sma-care/managing-sma.html

  Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival in people with spinal muscular atrophy (SMA). […] In recent years the care for spinal muscular atrophy (SMA) has changed, and along with it the approach to care in managing the disease. Though SMA is a rare disease, there are some established guidelines to help both caregivers and healthcare professionals understand the different aspects of supportive care. […] The current guidelines recommend that a wide-ranging team of medical experts be involved in caring for a patient with spinal muscular atrophy, together with the family. This multidisciplinary care should be coordinated by one of the physicians generally the neurologist or paediatric neurologist.

• #84 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types. This has led to a substantial improvement in survival of infantile-onset SMA. […] Important advances in the treatment of SMA since 2007 include: Expansion of the use of non-invasive ventilation and cough machine support, Introduction of early spinal surgery, Greater emphasis on a multidisciplinary approach to care, Advent of clinical trials and new drug approvals in spinal muscular atrophy. […] Adopting a proactive approach to care can influence the trajectory of disease progression and improve the natural history of SMA. SMA is a neuromuscular disease that requires multidisciplinary medical care, and in some instances, a palliative approach. […] For children with SMA, a proactive approach may include earlier placement of a feeding tube, intensive respiratory support (e.g. non-invasive ventilation and cough assist machines), early spinal surgery and regular sessions of physical therapy.

• #85 Care Approaches

  https://hcp.togetherinsma.eu/en/home/sma-in-children/care-approaches-in-children.html

  Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types. This has led to a substantial improvement in survival of infantile-onset SMA. […] Important advances in the treatment of SMA since 2007 include: Expansion of the use of non-invasive ventilation and cough machine support, Introduction of early spinal surgery, Greater emphasis on a multidisciplinary approach to care, Advent of clinical trials and new drug approvals in spinal muscular atrophy. […] Adopting a proactive approach to care can influence the trajectory of disease progression and improve the natural history of SMA. SMA is a neuromuscular disease that requires multidisciplinary medical care, and in some instances, a palliative approach. […] For children with SMA, a proactive approach may include earlier placement of a feeding tube, intensive respiratory support (e.g. non-invasive ventilation and cough assist machines), early spinal surgery and regular sessions of physical therapy.

• #86 Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4293319/

  Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. […] At present there are no effective disease-modifying treatments for SMA. Regardless, precisely designed supportive, rehabilitative, and palliative care can partly reduce the disease burden and alter the natural history. Treatment is designed to address the primary and secondary effects of muscle weakness and should include management of pulmonary complications, nutritional and gastrointestinal support, orthopedic care, rehabilitative interventions, and end-of-life care. Standards of care for SMA are established, but there is need for improved and more specific directives in this regard. A multidisciplinary team with experience in the care of SMA patients is usually most effective for delivery of care.

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