Kugelberg-Welander disease
From Wikipedia, the free encyclopedia
| ICD-10 | G12.1 |
|---|---|
| ICD-9 | 335.11 |
| OMIM | 158600 |
| DiseasesDB | 12315 |
| eMedicine | pmr/62 |
Kugelberg-Welander disease (or "juvenile spinal muscular atrophy, type III") is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy. 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.
[edit] 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.
[edit] Prognosis
The patient's condition tends to deteriorate over time, depending on the severity of the symptoms.
[edit] External links
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