Autosomal dominant proximal spinal muscular atrophy, adult-onset (Q105005): Difference between revisions
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A atrofia muscular espinal proximal autossômica dominante tipicamente se apresenta na 5ª década com fraqueza e atrofia dos músculos dos membros proximais, diminuição dos reflexos tendinosos profundos e função sensitiva e bulbar normais. É causada por uma mutação no gene da proteína transportadora de vesículas (VAFB, 20q13.32). | |||
| description / en | description / en | ||
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). | |||
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 |
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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). |
