Autosomal dominant proximal spinal muscular atrophy, adult-onset (Q105005)
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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 |
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| default for all languages | ID_718043342 |
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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). |
