scapuloperoneal spinal muscular atrophy

Term ID

DOID:0111552

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. (2)

References

• GARD:10314
• ICD10CM:G12.1
• MESH:D009134
• MIM:181405
• ORDO:431255
• SNOMEDCT_US_2023_03_01:230248006
• UMLS_CUI:C0751335

Ontology

Human Disease   ( DOID:0111552 )