This report describes general characteristics of the group of diseases classified as autosomal dominant distal hereditary motor neuronopathy. Autosomal dominant distal hereditary motor neuronopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of autosomal dominant distal hereditary motor neuronopathy subtypes may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated November 2023 by FlyBase; FBrf0222196]
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, pubmed:16775372). [From MIM:607641, 2016.01.11]
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. [From MIM:182960, 2016.01.11]
