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scapuloperoneal spinal muscular atrophy
Summary
- Synonym
-
- SPSMA
- neurogenic scapuloperoneal amyotrophy, New England type
- scapuloperoneal neuronopathy
- Definition
- A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
- Super Class
- autosomal dominant disease motor neuron disease
External Links
- Disease Ontology
- DOID:0111552
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
