autosomal dominant distal hereditary motor neuronopathy 8

Term ID

DOID:0111215

Synonyms

• autosomal dominant benign distal spinal muscular atrophy
• autosomal dominant congenital benign spinal muscular atrophy
• congenital benign spinal muscular atrophy with contractures
• congenital nonprogressive spinal muscular atrophy
• DHMN8
• distal hereditary motor neuronopathy type 8
• distal hereditary motor neuropathy type VIII
• HMN8

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (3)

References

• OMIM:600175

Ontology

Human Disease   ( DOID:0111215 )