spinal muscular atrophy type 3; chronic childhood spinal muscular atrophy; Kugelberg-Welander disease (SMA3)
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Introduction
Type III SMA, late infantile SMA, juvenile SMA.
Genetics
- autosomal recessive
- gene defect chromosome 5q11.2-13.3
Clinical manifestations
- SMA3 onset is after 18 months; patients develop ability to stand & walk & survive into adulthood
Notes
see NINDS Spinal Muscular Atrophy Information Page
More general terms
References
- ↑ Asbury, McKhann, McDonald. Diseases of the Nervous System. Clinical Neurobiology. Saunders 1992
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Spinal Muscular Atrophy Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Spinal-Muscular-Atrophy-Information-Page
Patient information
spinal muscular atrophy type-3 (Kugelberg Welander Syndrome) patient information