Distal hereditary motor neuropathies

Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions. Distal HMN are classified into phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features.

Nervous system disease

(HMN2A) HSPB8 [HSA:26353] [KO:K08879]
(HMN2B) HSPB1 [HSA:3315] [KO:K04455]
(HMN2C) HSPB3 [HSA:8988] [KO:K09544]
(HMN2D) FBXO38 [HSA:81545] [KO:K10313]
(HMN5A) GARS [HSA:2617] [KO:K01880]
(HMN5A) BSCL2 [HSA:26580] [KO:K19365]
(HMN5B) REEP1 [HSA:65055] [KO:K17338]
(HMN6/DSMA1) IGHMBP2 [HSA:3508] [KO:K19036]
(HMN7A) SLC5A7 [HSA:60482] [KO:K14387]
(HMN7B) DCTN1 [HSA:1639] [KO:K04648]
(HMN8) TRPV4 [HSA:59341] [KO:K04973]
(DSMA2) SIGMAR1 [HSA:10280] [KO:K20719]
(DSMA4) PLEKHG5 [HSA:57449] [KO:K19464]
(DSMA5) DNAJB2 [HSA:3300] [KO:K09508]
(DSMAX) ATP7A [HSA:538] [KO:K17686]

Autosomal dominant inheritance include distal HMN1 and 2, characterized by juvenile and adult onset, respectively; HMN5, characterized by upper limb involvement; HMN7, with vocal cord paralysis; and HMN8. HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN.
See also H00455 Spinal muscular atrophy (SMA).

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