Spinal Muscular Atrophy

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Basics

• Summary
• Start Here
• Symptoms
• Diagnosis and Tests
• Prevention and Risk Factors
• Treatments and Therapies

Learn More

• Living With
• Specifics
• Genetics

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Research

• Clinical Trials
• Journal Articles

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For You

• Children
• Patient Handouts

Summary

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.

SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.

There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

Start Here

• About Spinal Muscular Atrophy (SMA): Frequently Asked Questions (Spinal Muscular Atrophy Foundation)
• Spinal Muscular Atrophy (National Institute of Neurological Disorders and Stroke) - Short Summary Also in Spanish
• Spinal Muscular Atrophy (National Institute of Neurological Disorders and Stroke)
• Spinal Muscular Atrophy (SMA) (Muscular Dystrophy Association) - PDF Also in Spanish
• Types of SMA (Spinal Muscular Atrophy) (Cure SMA)

Symptoms

• About Kennedy's Disease: Symptoms (Kennedy's Disease Association)
• SMArt Moves: Early Action (Cure SMA)

Diagnosis and Tests

• Electromyography (EMG) and Nerve Conduction Studies (National Library of Medicine) Also in Spanish
• Newborn Screening for SMA (Cure SMA)
• SMA: Testing & Diagnosis (Cure SMA)

Prevention and Risk Factors

• Genetics (Cure SMA)

Treatments and Therapies

• SMArt Moves: Early Treatment (Cure SMA)

Living With

• Medical Issues: Breathing Risks and Care (Cure SMA)
• Medical Issues: Musculoskeletal (Cure SMA)
• Medical Issues: Nutrition (Cure SMA)

Specifics

• Kennedy's Disease (National Institute of Neurological Disorders and Stroke)

Genetics

• Learning about Spinal Muscular Atrophy (National Human Genome Research Institute)
• spinal and bulbar muscular atrophy: MedlinePlus Genetics (National Library of Medicine)
• spinal muscular atrophy with lower extremity predominance: MedlinePlus Genetics (National Library of Medicine)
• spinal muscular atrophy with progressive myoclonic epilepsy: MedlinePlus Genetics (National Library of Medicine)
• spinal muscular atrophy: MedlinePlus Genetics (National Library of Medicine)
• X-linked infantile spinal muscular atrophy: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Muscular Atrophy, Spinal (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes.
• Article: Author response: Discrepancy in redetermination of SMN2 copy numbers in children...
• Article: Reader response: Discrepancy in redetermination of SMN2 copy numbers in children...
• Spinal Muscular Atrophy -- see more articles

Find an Expert

• National Institute of Neurological Disorders and Stroke Also in Spanish

Children

• SMA: Infants and Children (Cure SMA)
• Spinal Muscular Atrophy (SMA) (Nemours Foundation) Also in Spanish

Patient Handouts

• Spinal muscular atrophy (Medical Encyclopedia) Also in Spanish
• Swallowing problems (Medical Encyclopedia) Also in Spanish