scapuloperoneal spinal muscular atrophy (DOID:0111552)
Alliance: disease page
Synonyms: neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy; SPSMA
Alt IDs: OMIM:181405, ICD10CM:G12.1, MESH:D009134, ORDO:431255, UMLS_CUI:C0751335
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.