autosomal dominant distal hereditary motor neuronopathy 2

Term ID

DOID:0111206

Synonyms

• distal hereditary motor neuronopathy type 2
• distal hereditary motor neuronopathy type 2A
• distal hereditary motor neuropathy type II
• HMN II
• HMN2

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (3)

References

• MESH:C580044
• MIM:158590
• ORDO:139525
• UMLS_CUI:C3711384

Ontology

Human Disease   ( DOID:0111206 )