autosomal dominant distal hereditary motor neuronopathy 5

Term ID

DOID:0111203

Synonyms

• DHMN5
• distal hereditary motor neuronopathy type 5
• distal hereditary motor neuronopathy type 5A
• distal hereditary motor neuropathy type V
• distal HMN V
• distal spinal muscular atrophy type V
• distal spinal muscular atrophy with upper limb predominance
• DSMAV
• HMN5

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (2)

References

• MESH:C563443
• OMIM:600794
• ORDO:139536
• SNOMEDCT_US_2023_03_01:1197152005
• UMLS_CUI:C1833308

Ontology

Human Disease   ( DOID:0111203 )