Autosomal dominant proximal spinal muscular atrophy, adult-onset (Q105005): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
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). | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/718043342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_718043342 | |||||||||||||||
| Property / CURIE: CID11:ID_718043342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_718043342 | |||||||||||||||
| Property / Canary Token: dki-india-ID_718043342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
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). |
Statements
CID11:ID_718043342
0 references
dki-india-ID_718043342
0 references
Concluído
0 references
16 August 2026
0 references
