Autosomal dominant benign distal spinal muscular atrophy (Q103452): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/741190474 / rank | |||
Normal rank | |||
Revision as of 09:13, 17 August 2026
Patients with autosomal dominant benign distal spinal muscular atrophy present with lower motor neuron weakness of the lower limb. Weakness is congenital, and arthrogryposis may be observed, suggesting intrauterine onset. Severity of weakness varies within families. Weakness is typically non-progressive. The disease is caused by mutations in the TRPV4 gene (12q24.11).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_741190474 |
||
| English | Autosomal dominant benign distal spinal muscular atrophy |
Patients with autosomal dominant benign distal spinal muscular atrophy present with lower motor neuron weakness of the lower limb. Weakness is congenital, and arthrogryposis may be observed, suggesting intrauterine onset. Severity of weakness varies within families. Weakness is typically non-progressive. The disease is caused by mutations in the TRPV4 gene (12q24.11). |
