Autosomal dominant proximal spinal muscular atrophy, adult-onset (Q105005): Difference between revisions

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Latest revision as of 10:54, 17 August 2026

Autosomal dominant proximal spinal muscular atrophy typically presents in the 5th decade with weakness and atrophy of proximal limb muscles, depressed deep tendon reflexes and normal sensory and bulbar function. It is caused by a mutation in the Vesicle-Trafficking Protein gene (VAFB, 20q13.32).

Language	Label	Description	Also known as
default for all languages	ID_718043342
English	Autosomal dominant proximal spinal muscular atrophy, adult-onset	Autosomal dominant proximal spinal muscular atrophy typically presents in the 5th decade with weakness and atrophy of proximal limb muscles, depressed deep tendon reflexes and normal sensory and bulbar function. It is caused by a mutation in the Vesicle-Trafficking Protein gene (VAFB, 20q13.32).