Kugelberg-Welander disease
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| Kugelberg-Welander disease / Spinal Muscular Atrophy type 3 Classification and external resources |
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| ICD-10 | G12.1 |
|---|---|
| ICD-9 | 335.11 |
| OMIM | 158600 |
| DiseasesDB | 12315 |
| eMedicine | pmr/62 |
| MeSH | D014897 |
Kugelberg-Welander disease (also known as juvenile spinal muscular atrophy, spinal muscular atrophy type III[1]) is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy, or SMA.
It is also known as "hereditary proximal spinal muscular atrophy".[2]
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[edit] Eponym
It is named for Erik Kugelberg and Lisa Welander.[3][4]
[edit] Presentation
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
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.
[edit] References
- ^ Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y, Saito K (April 2008). "An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)". Neuropathology. doi:. PMID 18410269.
- ^ Garvie JM, Woolf AL (June 1966). "Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy)". Br Med J 1 (5501): 1458–61. PMID 5933049.
- ^ synd/1234 at Who Named It
- ^ Kugelberg E, Welander L (May 1956). "Heredofamilial juvenile muscular atrophy simulating muscular dystrophy". AMA Arch Neurol Psychiatry 75 (5): 500–9. PMID 13312732.
[edit] External links
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