Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 1;
Symbol : HMND1;
CISMeF acronym : HMN1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Charcot-marie-tooth disease, spinal, I; Spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type I; Neuropathy, distal hereditary motor, harding type I; Hmn I; DHMN1; Neuronopathy, distal hereditary motor, harding type I; HMN1;
Description : Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular
disorders caused by anterior horn cell degeneration and characterized by progressive
distal motor weakness and muscular atrophy of the peripheral nervous system without
sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease
(spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy'
based on the hypothesis that the primary pathologic process resides in the neuron
cell body and not in the axons (Irobi et al., 2006). - Genetic Heterogeneity of Autosomal
Dominant Distal Hereditary Motor Neuronopathy Harding (1993) proposed a classification
of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance,
and presence of additional features. Those that show autosomal dominant inheritance
include distal HMN type I, and II (HMN2A, 158590 and HMN2B, 608634), characterized
by juvenile and adult onset, respectively; HMN type V (HMN5A, 600794 and HMN5B, 614751),
characterized by upper limb involvement; and HMN VII (HMN7A, 158580 and HMN7B, 607641),
with vocal cord paralysis. HMN2A is caused by mutation in the HSPB8 gene (608014),
HMN2B by mutation in the HSPB1 gene (602195), HMN2C (613376) by mutation in the;
Inheritance : Autosomal dominant;
Prefixed ID : #182960;
Origin ID : 182960;
UMLS CUI : C1866784;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
