Spinal muscular atrophy, lower extremity, autosomal dominant

Common Name(s)

Spinal muscular atrophy, lower extremity, autosomal dominant

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities ({6:Harms et al., 2010}). The most common form of SMA (see, e.g., SMA1, {253300}) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene ({600354}) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2 ({615290}), caused by mutation in the BICD2 gene ({609797}) on chromosome 9q22.
 

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Following organizations serve the condition "Spinal muscular atrophy, lower extremity, autosomal dominant" for support, advocacy or research.

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Scientific Literature

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