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Werdnig-Hoffmann disease

Werdnig-Hoffman disease (or "Infantile spinal muscular atrophy, type I") is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy. more...

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Symptoms

It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before the age of 2. Other symptoms include:

  • Fasciculation
  • Hypotonia
  • Difficulty breathing

Treatment

Treatment is symptomatic and supportive and includes treating pneumonia, curvature of the spine and respiratory infections, if present. Also, physical therapy, orthotic supports, and rehabilitation are useful. Genetic counseling is imperative.

Prognosis

The patient's condition tends to deteriorate over time, depending on the severity of the symptoms. Affected children never sit or stand and usually die before the age of 2.

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