Spinal muscular atrophy, type I

Generally, intellectual disability and cognitive impairment are not symptoms of spinal muscular atrophy (SMA).

The term proximal is used to described spinal muscular atrophy because the proximal muscles are usually affected. These muscles are the muscles that are closet to the body such as the muscles of the upper leg (above the knees) as opposed to those below the knees. Generally, the muscles of the upper legs and hips are affected worse than the those of the upper arms and shoulders. As the disease progresses, other muscles including those used for breathing become weakened.

In a family with spinal muscular atrophy, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the SMN1 gene.) However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of SMA should be tested through molecular genetic testing. The results can be hard to interpret. A genetic counselor or a physician with experience in SMA can provide advice about whether prenatal diagnosis is appropriate and how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Genetics and a genetic counselor can be found through the National Society of Genetic Counselors.

Support groups can put you in contact with other people or families that have spinal muscular atrophy (SMA). Support groups include Cure SMA, Fight SMA, Spinal Muscular Atrophy Foundation, Claire Altman Heine Foundation, Inc, Gwendolyn Strong Foundation, and Muscular Dystrophy Foundation.

There are also online communities for rare disorders such as Ben’s Friends, RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical cost of spinal muscular atrophy (SMA) can be significant. Some families lack the resources necessary to provide for a chronically or terminally ill child. There are several organizations that provide financial assistance.

Support groups often provide various resources for families and individuals dealing with SMA. Support groups for SMA include Cure SMA, Fight SMA, Spinal Muscular Atrophy Foundation, Claire Altman Heine Foundation, Inc, Gwendolyn Strong Foundation, and Muscular Dystrophy Foundation.

The Social Security Administration provides has a Compassionate Allowances Initiative. This program speeds up the processing of disability claims for people with specific medical conditions that cause severe disability. Infants and children with spinal muscular atrophy types 0 and I are included on the Compassionate Allowances list.

The National Organization for Rare Disorders (NORD) has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

A diagnosis of spinal muscular atrophy (SMA) can be confirmed by genetic testing, which uses tests that can detect changes in the SMN1 gene. This can include deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene; targeted mutation analysis, where specific, known changes in a gene are looked for; or sequence analysis, where a part or sequence of DNA within a gene is examined. Molecular genetic testing must be done at specialized laboratories. These tests are usually done on a blood sample.

Genetic testing, specifically deletion/duplication analysis, may also be performed to determine how many copies of the SMN2 gene a person has. This can help doctors determine how severe someone symptoms may become.

If genetic testing cannot identify an alteration in the SMN1 gene, then doctors may need to perform a muscle biopsy. A muscle biopsy collects a small piece of muscle that is then looked at for changes in the tissue. Other tests may be run including a creatine kinase (CK) blood test. A positive test means that the CK level is high, which can mean a problem with the muscles. CK is an enzyme. When muscle tissue is damaged, CPK leaks out into the bloodstream. CK testing cannot be used to make a final diagnosis; it tells the doctors that the problem is with the muscles themselves and not with the nerves that supply the muscles. A nerve conduction study measures how rapidly nerves carry an electrical impulse. An electromyography is a test that records electrical activity in skeletal voluntary muscles at rest and during muscle contraction. All of these tests are done to rule out other conditions that may appear similar to SMA.

Talk to your doctor and medical team for more information on tests that may be run on people suspected of having SMA. To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

The SMN2 gene is extremely important in people with spinal muscular atrophy caused by mutations to the SMN1 gene. The SMN1 gene produces the survival motor neuron (SMN) protein. When the SMN1 genes are altered, they cannot produce the protein or produce an ineffective version of it. Individuals with SMA may have extra copies of the SMN2 gene. This gene produces some of the survival motor neuron protein that should have been produced by the SMN1 gene. This helps to compensate for the loss the protein. Generally, the more copies of the SMN2 gene a person has, the less severe the disorder is. Because the SMN2 gene can impact the severity of SMA, it is sometimes called the ‘rescue gene’. There are most likely additional reasons or factors that determine the severity of SMA.

Spinal muscular atrophy is a group of disorders. Sometimes, life-threatening complications occur in infancy. Other people do not develop symptoms until later in life. Even in the most severe form (SMA I) the symptoms can be very different in one child as in another. Doctors use to believe that children with SMA I would only live one or two years, but now with treatment these children live longer. Consequently, it is difficult to make predictions about how the disease will progress for an individual child. Talk to your doctor and entire medical team about you or your child’s diagnosis and individual prognosis.

A spinal muscular atrophy (SMA) is one of a group of genetic conditions that affect the nerves, brain, and muscles in the body. In SMA, the nerves cells (motor nuclei) in the lowest region of the brain (lower brainstem) and nerve cells in the spinal cord (motor neurons) become more and more damaged and are unable to work correctly. The first symptoms of the nerve damage are usually "floppy" muscles that mean people can no longer sit up or use their arms and legs how they would like to. Muscles will continue to become weaker and weaker, slowly breaking down. This is called atrophy. As the disease gets worse, people will have increasing problems eating, swallowing, and breathing.

The main subtypes, SMA 0-4 are based on the age of onset of symptoms and the course and progression of the disease. SMA represents a continuum or spectrum of disease with a mild end and a severe end. This spectrum will range from early death in infancy to people who live normal adult lives with mild weakness. SMA0 patients are extremely weak at birth, require immediate artificial ventilation and will never breathe independently. Werdnig-Hoffmann disease, which is also known as proximal spinal muscular atrophy type 1 (SMA1), refers to infants with onset before 6 months of age. These infants have muscle weakness and breathing problems. SMA II patients will show symptoms prior to age 1 year, will sit but never stand or walk on their own. SMA III patients (Kugelberg-Welander disease) will show symptoms after age 1; the amount of muscle weakness in these children will vary. SMA IV patients will not develop symptoms much before age 10 years.

These disorders are sometimes called proximal SMAs. Proximal refers to the muscles that are closest to the body such as the upper arms or upper legs. These muscles are usually affected first in SMA. The proximal forms of SMA are inherited as an autosomal recessive trait and are cause alterations (mutations) in the SMN1 (survival motor neuron 1) gene on chromosome 5.

Spinraza is approved for the treatment of spinal muscular atrophy (SMA) in children and adults.
If a loading dose is delayed or missed, your doctor may administer SPINRAZA as soon as possible, with at least 14-days between doses and continue dosing as prescribed. If a maintenance dose is delayed or missed, you doctor may administer SPINRAZA as soon as possible and continue dosing every 4 months.

Spinal muscular atrophy (SMA) is caused by gene changes in the SMN1 gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly. The main forms of SMA are caused by changes (mutations) in the SMN1 gene. SMN is an acronym for "survival of motor neurons." Some people may have extra copies of the SMN2 gene as well. This can alter how severe the disorder is. If a person has extra copies of the SMN2 gene, the protein produced from this gene can partly compensate for the deficient protein normally produced from the SMN1 gene.

To find a medical professional nearby who can discuss information about gene changes in SMA, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Spinraza is administered as a spinal injection and should only be administered by an experienced health care provider who is experienced in performing lumbar punctures.

The recommended dosage is 12 mg (5 mL) per administration
Initiate SPINRAZA treatment with 4 loading doses:
i. The first three loading doses should be administered at 14-day intervals
ii. The 4th loading dose should be administered 30 days after the 3rd dose
iii. A maintenance dose should be administered once every 4 months thereafter

Rare diseases that affect multiple organ systems like spinal muscular atrophy (SMA) can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for neurological disorders (neurologist) who will monitor the function and health of the central nervous system and brain; a lung doctor (pulmonologist) who can monitor lung function and health and treat breathing problems; a doctor who deals with skeletal disorders (orthopedists); a doctor who treats skeletal disorders through surgery (orthopedic surgeon); a nutritionist who can develop a special diet; a specialist in digestive disorders (gastroenterologist); a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a metabolic disease specialist.

Talk to your doctor about the best specialists in your area to follow an individual with spinal muscular atrophy.

The cells that are affected in spinal muscular atrophy (SMA) are the motor neurons. These cells are found within the brain and the spinal cord. They carry nerve signals (instructions) from the brain to the muscles. These cells shrink and break down in people with SMA because they have an altered gene. This gene, called SMN1, produces a protein that is essential for the survival and function of motor neurons.

When infants and children have a chronic disorder like spinal muscular atrophy (SMA), it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Spinal muscular atrophy (SMA) IV is sometimes called the adult form of SMA. Symptoms often first become apparent after 30 years of age, although they can start as early as the teen-age years. Muscle weakness is the primary symptom of SMA and it usually affects the legs and hips. Eventually, muscle weakness will spread to affect the shoulders and arms. Muscle weakness progresses gradually. The muscles used for breathing are rarely involved. Individuals may have enlargement of the calf or finger trembling or fasciculations, which are minor muscle contractions that cause involuntary twitching. SMA IV is much less common than other forms of SMA.

It is best that individuals talk to their doctors and medical team about their specific situation. To find a medical professional nearby who can discuss information about SMA, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Spinal muscular atrophy (SMA) III is sometimes called the juvenile form of SMA or Kugelberg-Welander syndrome. Children usually begin to show signs of the disorder after 18 months of age. Some individuals may not develop signs until later in childhood or the teen-age years. Children with SMA III can stand and walk on their own, but they may fall frequently or appear clumsy. They may have trouble running or climbing stairs. Muscle weakness usually begins in the legs and hips before spreading to affect the arms and shoulders. Finger trembling and abnormal curving of the spine called scoliosis are common. As these individuals grow older, muscle weakness worsens. Many individuals eventually require a wheelchair. The severity of the disorder can be very different. Some individuals will lose the ability to walk in their teen years; others can walk into their 20s and 30s.

The exact progression of SMA III can be different in one child when compared to another. It is best that parents talk to their doctors and medical team about their specific situation. To find a medical professional nearby who can discuss information about SMA, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Spinal muscular atrophy (SMA) II is sometimes called the intermediate form of SMA. Children usually begin to show signs of the disorder between 7-12 months of age. Muscle weakness most commonly affects the muscles of the legs and the trunk. Because of muscle weakness, children may have delays in reaching or never reach certain developmental milestones. Some children will be able to hold up their head or sit up on their own. However, many will be unable to stand or walk without assistance. Some will lose the ability to sit up on their own. They may lack muscle tone and have abnormal curving of the spine (called scoliosis) and bones that fracture even when there is only minor trauma. Some children have a slight tremor in their fingers. Infants and children with SMA II may develop breathing problems and possibly respiratory failure.

The exact progression of SMA II can be different in one child when compared to another. It is best that parents talk to their doctors and medical team about their specific situation. To find a medical professional nearby who can discuss information about SMA, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Spinal muscular atrophy I, also called Werdnig-Hoffman syndrome usually begins to show symptoms before 6 months of age. These infants have severe muscle weakness. They have a lack of muscle tone so that they are described as "floppy" like a rag doll, a condition called hypotonia. They are not able to sit up without help or support their own head. Some infants may have difficulty sucking and swallowing. Infants may have difficulties feeding and getting enough nutrition. Breathing problems are common and often lead to respiratory failure. Some infants may have mild contractures, in which a joint becomes stuck in a bent or extended position. In the past, infants with SMA type I often passed away by two years of age. However, with prompt diagnosis and treatment, which can include a mechanical device to help breathing or inserting a feeding tube to ensure proper nutrition, these children can live longer.

The exact progression of SMA type I can be different in one child when compared to another. It is best that parents talk to their doctors and medical team about their specific situation. To find a medical professional nearby who can discuss information about SMA, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Spinal muscular atrophy (SMA) is a group of disorders in which certain muscles weaken and break down. The severity of SMA can range from severe, life-threatening complications in infancy to people who are diagnosed as adults and only develop mild weakness. SMA is best thought of as a spectrum of disease with a very severe end and a mild end. People can develop symptoms that would fall anywhere along this spectrum. When symptoms do develop, the muscles of the legs and hips are often affected, usually before the arms or shoulders and usually more severely. Children with SMA can have problems breathing and may never be able to sit up, stand or walk on their own.

Because SMA can present so differently and cause both severe and mild problems, it is best to talk with your doctor and entire medical team about you or your child’s individual situation.

After a diagnosis of spinal muscular atrophy (SMA) is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Supports groups such as the Cure SMA, Fight SMA, Spinal Muscular Atrophy Foundation, and the Muscular Dystrophy Foundation can sometimes provide referrals to physicians or medical centers with experience in treating these disorders. People diagnosed with SMA will go through a series of tests to see how far along the disorder is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Spinal muscular atrophy (SMA) is not one of the disorders that is detected through newborn screening in 2016. Researchers are working on tests that will allow SMA to be tested as part of a newborn screening panel. If a baby appears to have health problems that could be caused by SMA, the easiest way to begin testing for SMA is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website. Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation.

As of September 2016, there is information on about 151 studies associated with spinal muscular atrophy (SMA) listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not be an exhaustive list of current research.

There is no cure for spinal muscular atrophy (SMA); however, on December 23, 2016 the FDA approved Spinraza (TM) (nusinersen) to treat spinal muscular atrophy. SPINRAZA is indicated for the treatment of spinal muscular atrophy (SMA) in pediatric and
adult patients. Spinraza is administered intrathecally (IT), meaning it is given into the cerebrospinal fluid by an injection.

There are several other treatments used to help reduce or manage the health problems seen in SMA. However, because the disorder affects people very differently, treatment options will be very different among people with the disorder. Common treatment options are braces, canes or other devices that can help support joints, pain medications, physical and occupational therapy, and a splint or brace for spinal problems. Surgery may be necessary sometimes to treat certain skeletal or joint problems. Infants and children who have difficulty feeding or eating may need to use a feeding tube to ensure they meet their nutritional needs. Weakness of the muscles necessary for breathing may require efforts to help them breath; this can include the use of machines that help children breath or, in severe instances, this may mean that a breathing tube is surgically inserted into the body. Some children may require 24-hour breathing assistance.

Taking care of a patient with spinal muscular atrophy can be challenging but Biogen has created a program to help patients and care givers navigate insurance issues. SMA360° is a support service from Biogen created to help families navigate various areas of the treatment process with SPINRAZA. The SMA360° team is made up of some important people: the Family Access Manager (FAM) and the Lead Case Manager (LCM). Read on to learn more about the roles they can play in your SPINRAZA experience. This service is only available to patients who have been prescribed Spinraza and are currently U.S. residents.

There are 2 ways in which you may be eligible for financial assistance from Biogen’s $0 Copay Program: for SPINRAZA itself and for the treatment procedure.

Please note that these are 2 different programs, and you must enroll separately as needed.
$0 Drug Copay Program and $0 Procedure Copay Program
Generally, all individuals on non-government insurance are eligible, regardless of income, and there is no annual maximum on the amount Biogen will cover as part of the program. Insurance will be billed first, and must pay before copay assistance will be applicable.

Individuals receiving coverage from Medicare, Medicaid, the VA/DoD, TRICARE®, or any other governmental or pharmaceutical assistance may not be eligible. Contact a Lead Case Manager (LCM) for more information.

$0 Procedure Copay Program
In addition to the above criteria, you are eligible for this program if you meet the following requirements:
You are not a resident of Massachusetts, Michigan, Minnesota, or Rhode Island
Your HCP submits a request for treatment using an approved procedure code for Anesthesia, Imaging procedures, and/or Surgical procedure/drug administration. Only codes approved by Biogen shall be eligible under the program

Third-party funding assistance
If it is determined that you are not eligible for the $0 Copay Program, an LCM can help you find charitable organizations that may provide third-party assistance.

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. Talk to a genetic counselor about the pros or cons of participating in a patient registry. There is a patient registry for spinal muscular atrophy. The Indiana School of Medicine in Indianapolis, Indiana, houses the International Spinal Muscular Atrophy Patient Registry.

Some children with spinal muscular atrophy (SMA) may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.
The International Children’s Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care. This information can be found at the Pediatric Palliative Care link.

Gene therapy is a treatment approach that replaces the defective gene in a person with an unaffected one that can produce the necessary protein normally made by the altered gene. As of September 2016, gene therapy has not been approved by the U.S. Food and Drug Administration for the treatment of any disorder. Researchers are studying gene therapy as a treatment for people with spinal muscular atrophy (SMA). For more information about research on SMA, visit clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials.

Carriers of an altered SMN1 gene that causes spinal muscular atrophy do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

Spinraza has been approved for the treatment of spinal muscular atrophy in pediatric and adult patients. In clinical studies, the most common side effects of Spinraza included lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome (headache related to the intrathecal procedure). Because an increased risk of bleeding and kidney damage has been seen in similar medications, individuals taking Spinraza may be at similar risk. It is recommended that your healthcare provider (HCP) perform blood and urine testing once before treatment and again before each dose to monitor for signs of these risks. Depending on the patient’s health condition, the healthcare provider may sedate the patient before administering Spinraza.

These are not all of the possible side effects of Spinraza. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Spinal muscular atrophy (SMA) is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the SMN1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the SMN1 gene from both parents. The parents have one working copy of the gene and one nonworking copy. They are carriers for spinal muscular atrophy. Carriers do not develop symptoms of the disorder.

When two parents who are carriers have children, each child of theirs will have a 25% chance for being affected with this condition. In this case, both parents would have passes along a nonworking copy of the gene and the child will have the disorder. When two parents who are carriers have children, there is a 50% chance that one parent will pass on the gene change and the other won’t, meaning the child will be a carrier for the disorder. There is also a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier.

The main forms of spinal muscular atrophy (SMA) are inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the SMN1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of one of these genes from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for SMA. Carriers do not develop symptoms of the disorder. If two people who are carriers for SMA have a child, there is a 25% chance with each pregnancy that the child will have the same disorder and a 50% chance the child will also be a carrier and a 25% chance that the child will not have the disorder or be a carrier. If you have a family member with a form of spinal muscular atrophy and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.

Spinal muscular atrophy is caused by a change in a gene called the survival of motor neurons 1 or SMN1 gene. When a mutation occurs in a gene, the protein that the gene produces may be absent, deficient or not function properly. The SMN1 gene produces a protein called the survival motor neuron protein. This protein is found in every cell of the body, but affects motor neurons more than other cells. Doctors are exactly sure why, but believe it is because motor neurons need this protein more than other cells. Without sufficient levels of this protein motor neurons break down and die, and nerve impulses cannot be sent from the brain to the muscles.

Some people may have extra copies of a related gene called SMN2 . This can alter how severe the disorder is. If a person has extra copies of the SMN2 gene, the protein produced from this gene can partly compensate for the deficient protein normally produced from the SMN1 gene. There are other factors that can alter the severity of SMA in addition to extra copies of the SMN2 gene.

A doctor may suspect a diagnosis of spinal muscular atrophy (SMA) because of the presence of certain symptoms. SMA I may be suspected because symptoms begin around 6 months or age and include muscle weakness and generalized floppiness in infants that are otherwise attentive and unaffected intellectually. In all forms of SMA, the legs and hips are affected worse than the arms and shoulder. A doctor will do a complete physical examination and talk about a patient and family’s medical history. SMA II and SMA III may be suspected because of a patient’s medical history and specific symptoms. SMA IV may be very difficult to diagnosis because it is extremely rare and sometimes very mild. To confirm a diagnosis, a doctor may recommend genetic testing. These tests involve studying SMN1 gene for changes (mutations).

If you believe that you or your child has SMA, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

If you suspect that someone in your family has SMA, you should also talk to a genetic counselor in your area.

To learn about ongoing clinical research into spinal muscular atrophy (SMA) ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for SMA can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for SMA include Cure SMA, Fight SMA, Spinal Muscular Atrophy Foundation, Claire Altman Heine Foundation, Inc., and the Gwendolyn Strong Foundation. The Muscular Dystrophy Foundation also provides information on SMA.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a center or clinic that specializes in spinal muscular atrophy (SMA) or similar disorders. These centers specialize in the treatment of patients with spinal muscular atrophy. At most centers you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need.

Contact supports groups for SMA to find out where such clinics and centers are located. Support groups for SMA include, Cure SMA, Fight SMA, Spinal Muscular Atrophy Foundation, Claire Altman Heine Foundation, Inc., and the Gwendolyn Strong Foundation. The Muscular Dystrophy Foundation also provides support for SMA.

Depending on the severity of the disorder, many children with spinal muscular atrophy (SMA) will attend mainstream school and can achieve academic success. Some children will need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on SMA and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans.

Spinal muscular atrophy (SMA) is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed. SMA is estimated to affected about 1 in 4,000 to 7,000 people. The most common form of the disorder is SMA I, or Werdnig-Hoffman syndrome. It accounts for more than 90% of people with SMA and is estimated to affected about 1 in 6,000 to 10,000 infants. As many as 1 in 40 people may be a carrier for the disorder. SMA is second most common autosomal recessive disorder after cystic fibrosis.

Some children with spinal muscular atrophy (SMA) have lung and breathing problems. These problems can be severe or even life-threatening. These complications are more common in SMA I or II. A small percentage of children with SMA III may have lung and breathing problems. When the muscles that help us breath weaken, children may not be able to cough well (and therefore cannot clear normal secretions from the lungs) or breath easily or properly. Usually, problems begin at night when a child is sleeping, but eventually causes problems during the day as well.

A specialist with lung disorders and breathing problems will work to develop a plan to treat people with these problems. At first, this may mean noninvasive techniques, such as providing air through a mask or mouthpiece. Eventually, a doctor may recommend using different types of machines that help people breath or an In-Exsufflator Cough Machine (often called Cough Assist), which helps to clear secretions from the lungs.

Some parents may choose to have their child tested for spinal muscular atrophy (SMA) before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes SMA are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the SMN1 gene. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the SMN1 gene. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

Spinal muscular atrophy as a group of diseases is not known by any other names. However, the individual subtypes may be known by different names. This is as follows:

There are many different disorders that may be classified as spinal muscular atrophy (SMA). The main forms are called proximal spinal muscular atrophy. These forms are caused by alterations or mutations in the SMN1 gene on chromosome 5. These forms are numbered 0-4 (or 0-IV) and are based on the age of onset of symptoms and the course and progression of the disease. Sometimes, these forms are called SMN1-related spinal muscular atrophy or chromosome 5 SMA.

There are other forms of SMA including X-linked SMA caused by alterations in the UBA1 gene; SMA-lower extremity dominant, or SMA-LED, caused by alterations in the DYNC1H1 gene; and an adult onset form of SMA inherited as an autosomal dominant trait and caused by alterations in the VAPB gene. A disorder called spinal muscular atrophy with respiratory distress or SMARD is caused by alterations in the IGHMBP2 gene.

Researchers have continued to find other disorders that they classify as spinal muscular atrophy. These disorders are usually associated with different genes.

There are several support groups or organizations for spinal muscular atrophy (SMA) that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for SMA include:

The main types of spinal muscular atrophy (SMA) are also called proximal spinal muscular atrophy. These forms are caused by alterations or mutations in the SMN1 gene on chromosome 5. These forms are numbered 0-4 (or 0-IV) and are based on the age of onset of symptoms and the course and progression of the disease. SMA represents a continuum or spectrum of disease with a mild end and a severe end.

There are other forms of SMA including X-linked SMA caused by alterations in the UBA1 gene; SMA-lower extremity dominant, or SMA-LED, caused by alterations in the DYNC1H1 gene; and an adult onset form of SMA inherited as an autosomal dominant trait and caused by alterations in the VAPB gene. A disorder called spinal muscular atrophy with respiratory distress or SMARD is caused by alterations in the IGHMBP2 gene.

Researchers have continued to find other disorders that they classify as spinal muscular atrophy.

On December 23, 2016 the FDA approved Spinraza(TM) (nusinersen) to treat spinal muscular atrophy. SPINRAZA is indicated for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. Spinraza is manufactured by Biogen. Visit this link [link url=https://www.spinraza.com/en_us/home/patient-support-services/biogen-support-program.html] for more information.

There are several other treatments being studied in clinical trials that may be approved in the future. Some children with SMA may be benefit from a Vertical Expandable Prosthetic Titanium Rib (VEPTR), which was approved by the FDA in 2004 as a treatment for thoracic insufficiency syndrome (TIS) in children. This device is implanted into a child. It can be expanded as the child grows and can help to correct spinal deformities.