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

Symptoms

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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

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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. For individuals who survive early childhood, assistive technology can be vital to providing access to work and entertainment. Genetic counseling is imperative.

Prognosis

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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. However, some individuals have survived to become adults, in which case sexual function is unimpaired.

See also

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• Motor neurone disease

External links

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Diseases