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