Autosomal dominant proximal spinal muscular atrophy, childhood-onset (Q105008): Difference between revisions
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Pacientes com atrofia muscular espinal proximal autossômica dominante de início na infância apresentam fraqueza dos membros inferiores proximais por volta dos 2 anos de idade. Fraqueza e atrofia são mais proeminentes nos quadríceps e adutores do quadril, com fraqueza leve de outros músculos dos membros inferiores. A fraqueza permanece estática ou muito lentamente progressiva. É causada por mutações heterozigotas no gene DYNC1H1 (14q32.31). | |||
| description / en | description / en | ||
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). | |||
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 |
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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). |
