Spinal Muscular Atrophy

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Basics

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

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

• 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
• Spinal Muscular Atrophy FAQ (Spinal Muscular Atrophy Foundation)
• Types of SMA (Spinal Muscular Atrophy) (Cure SMA)

Symptoms

• About Kennedy's Disease: Symptoms (Kennedy's Disease Association)

Diagnosis and Tests

• Electromyography (EMG) (Mayo Foundation for Medical Education and Research) Also in Spanish

Prevention and Risk Factors

• Carriers (Cure SMA)

Living With

• Medical Issues: Breathing (Cure SMA)
• Medical Issues: Equipment (Cure SMA)
• Medical Issues: Nutrition (Cure SMA)
• Medical Issues: Orthopedics (Cure SMA)

Specifics

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

Genetics

• Genetics Home Reference: distal hereditary motor neuropathy, type V (National Library of Medicine)
• Genetics Home Reference: spinal and bulbar muscular atrophy (National Library of Medicine)
• Genetics Home Reference: spinal muscular atrophy (National Library of Medicine)
• Genetics Home Reference: spinal muscular atrophy with lower extremity predominance (National Library of Medicine)
• Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy (National Library of Medicine)
• Genetics Home Reference: spinal muscular atrophy with respiratory distress type 1 (National Library of Medicine)
• Genetics Home Reference: X-linked infantile spinal muscular atrophy (National Library of Medicine)
• Learning about Spinal Muscular Atrophy (National Human Genome Research Institute)

Clinical Trials

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

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

• Article: Treating Disease at the RNA Level with Oligonucleotides.
• Article: Spinal muscular atrophy 5Q - Treatment with nusinersen.
• Article: Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter...
• Spinal Muscular Atrophy -- see more articles

Find an Expert

• National Institute of Neurological Disorders and Stroke Also in Spanish

Children

• 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