Autosomal dominant proximal spinal muscular atrophy, childhood-onset (Q105008)
From determinar.ia.br - Determine suas informações
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). |
