Autosomal recessive distal spinal muscular atrophy type 3

A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.

Disease Alternative Name

juvenile spinal muscular atrophy
spinal muscular atrophy iii
kugelberg-welander disease
kugelberg-welander syndrome
spinal muscular atrophy type 3
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