Autosomal dominant benign distal spinal muscular atrophy (Q103452): Difference between revisions

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Latest 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).