Autosomal dominant benign distal spinal muscular atrophy

Preferred Label : Autosomal dominant benign distal spinal muscular atrophy;

ICD-11 definition : 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).;

ICD-11 synonym : Autosomal dominant congenital benign spinal muscular atrophy;

Details

Origin ID

741190474;

Currated CISMeF NLP mapping
- Autosomal dominant congenital benign spinal muscular atrophy [ORDO Disease]
- Autosomal dominant congenital benign spinal muscular atrophy (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 8 [OMIM Phenotype]
- distal hereditary motor neuronopathy type 8 [DO Concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH concept]

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