Autosomal dominant proximal spinal muscular atrophy, childhood-onset (Q105008): Difference between revisions

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Latest revision as of 10:54, 17 August 2026

Patients with childhood-onset autosomal dominant proximal spinal muscular atrophy present with proximal lower limb weakness around the age of 2. Weakness and atrophy are most prominent in the quadriceps and hip adductors, with mild weakness of other lower limb muscles. Weakness remains static or very slowly progressive. It is caused by heterozygous mutations in the DYNC1H1 gene (14q32.31).

Language	Label	Description	Also known as
default for all languages	ID_1205775957
English	Autosomal dominant proximal spinal muscular atrophy, childhood-onset	Patients with childhood-onset autosomal dominant proximal spinal muscular atrophy present with proximal lower limb weakness around the age of 2. Weakness and atrophy are most prominent in the quadriceps and hip adductors, with mild weakness of other lower limb muscles. Weakness remains static or very slowly progressive. It is caused by heterozygous mutations in the DYNC1H1 gene (14q32.31).