Term Name:	scapuloperoneal spinal muscular atrophy
Synonyms:	neurogenic scapuloperoneal amyotrophy, New England type, scapuloperoneal neuronopathy, SPSMA
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.
Ontology:	Human Disease [DOID:0111552]   ( DOID:0111552 )