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Spinal Muscular Atrophy

Also called: SMA

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

Symptoms of Spinal Muscular Atrophy

The following features are indicative of Spinal Muscular Atrophy:
  • areflexia
  • overall muscle weakness
  • poor muscle tone
  • limpness or a tendency to flop
  • difficulty achieving developmental milestones
  • difficulty in sitting/standing/walking
  • loss of strength of the respiratory muscles
  • bell-shaped torso
  • twitching of the tongue
  • difficulty in sucking or swallowing
It is possible that Spinal Muscular Atrophy shows no physical symptoms and still is present in a patient.

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Common Causes of Spinal Muscular Atrophy

The following are the most common causes of Spinal Muscular Atrophy:
  • genetic defect in the SMN1 gene

Risk Factors for Spinal Muscular Atrophy

The following factors may increase the likelihood of Spinal Muscular Atrophy:
  • family history

Prevention of Spinal Muscular Atrophy

No, it is not possible to prevent Spinal Muscular Atrophy.
  • genetic factors

Occurrence of Spinal Muscular Atrophy

Number of Cases

The following are the number of Spinal Muscular Atrophy cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Spinal Muscular Atrophy most commonly occurs in the following age group:
  • Aged between 1-20 years

Common Gender

Spinal Muscular Atrophy can occur in any gender.

Lab Tests and Procedures for Diagnosis of Spinal Muscular Atrophy

The following lab tests and procedures are used to detect Spinal Muscular Atrophy:
  • Electromyogram: To see fibrillation and muscle denervation
  • Serum creatine kinase test: To check the levels are normal or increased
  • Genetic testing: To check the presence of gene mutation

Doctor for Diagnosis of Spinal Muscular Atrophy

Patients should visit the following specialists if they have symptoms of Spinal Muscular Atrophy:
  • Medical geneticist

Complications of Spinal Muscular Atrophy if untreated

Yes, Spinal Muscular Atrophy causes complications if it is not treated. Below is the list of complications and problems that may arise if Spinal Muscular Atrophy is left untreated:
  • can be fatal

Procedures for Treatment of Spinal Muscular Atrophy

The following procedures are used to treat Spinal Muscular Atrophy:
  • Tracheostomy or noninvasive respiratory support: Provides positive-pressure breathing

Patient Support for Treatment of Spinal Muscular Atrophy

The following actions may help Spinal Muscular Atrophy patients:
  • Genetic counseling: Helpful in dealing with the disease

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Spinal Muscular Atrophy.
Muscular Dystrophy
Neuromuscular Disorders

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