Kugelberg-Welander disease

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Kugelberg-Welander disease / Spinal Muscular Atrophy type 3
ICD-10 G12.1
ICD-9 335.11
OMIM 158600
DiseasesDB 12315
eMedicine pmr/62 

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Kugelberg-Welander disease (also known as "juvenile spinal muscular atrophy, "spinal muscular atrophy type 3, or "spinal muscular atrophy type III") is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy, or SMA. It appears between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps or rising from a chair and slight tremor of the fingers.

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

Children with Kugelberg-Welander disease / spinal muscular atrophy type 3 may appear "normal" until they are five or 10 or even older. These children achieve independent walking and their weakness may be so mild that medical attention is not sought for years. Many children have a very benign course and may remain ambulatory for decades after the onset of symptoms. Other patients exhibit slowly progressive symptoms resulting in a loss of independent walking. Respiratory complications are uncommon and swallowing problems are rarely encountered.

External links


it:Sindrome di Wohlfart-Kugelberg-Welander


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