spinal muscular atrophy type II

spinal muscular atrophy type II

[MIM*253550]
a form intermediate in severity between the infantile form (SMA type I) and the juvenile form (SMA type III); characterized by proximal muscle weakness with onset usually between 3 and 15 months of age and survival until adolescence; autosomal recessive inheritance, caused by mutation in the SMN1 gene on 5q.
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Wheelchair-bound Ellen has spinal muscular Atrophy Type II, meaning she has no control over her lower limbs, suffers from chest infections and requires a special diet.
OTHER nominees included Ellen Law from Wallsend, who suffers from spinal muscular Atrophy Type II.
The wheelchair-bound eight-year-old has spinal muscular Atrophy Type II, meaning she has no control over her lower limbs, suffers from chest infections and requires a special diet.
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