Autosomal dominant proximal spinal muscular atrophy, childhood-onset (Q105008): Difference between revisions
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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).
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| default for all languages | ID_1205775957 |
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| 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). |
