Autosomal dominant benign distal spinal muscular atrophy (Q103452): Difference between revisions
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Pacientes com atrofia muscular espinal distal benigna autossômica dominante apresentam fraqueza do neurônio motor inferior do membro inferior. A fraqueza é congênita e pode ser observada artrogripose, sugerindo início intrauterino. A gravidade da fraqueza varia dentro das famílias. A fraqueza normalmente não é progressiva. A doença é causada por mutações no gene TRPV4 (12q24.11). | |||
| description / en | description / en | ||
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). | |||
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 |
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| default for all languages | ID_741190474 |
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| 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). |
