Neuronopathy, Distal Hereditary Motor, Type Va (HMN5A)

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Disease Ontology 12 DOID:0111203 DOID:0111204 DOID:0111214 OMIM® 57 600794 MeSH 44 C563443 D009134 ICD10 via Orphanet 33 G12.2 UMLS via Orphanet 72 C1833308

Orphanet 58 ORPHA139536 MedGen 41 C1833308 SNOMED-CT via HPO 68 122481008 130980003 203534009 205091006 22631008 249803006 249942005 263681008 275344002 302226006 386033004 394616008 42658009 53226007 713512009 85423005 86854008 95663000 more UMLS 71 C1833308

MedlinePlus Genetics : ⁴³ Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom.The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Va, also known as distal hereditary motor neuronopathy type 5, is related to spastic paraplegia 17, autosomal dominant and charcot-marie-tooth hereditary neuropathy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include spinal cord, and related phenotypes are impaired vibratory sensation and distal lower limb muscle weakness

Disease Ontology : ¹² An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences.

OMIM® : ⁵⁷ Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 (182960). (600794) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Neuronopathy, distal hereditary motor, 5A: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

Clinical features from OMIM®:

600794 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	9.93	KARS1
2	Decreased viability	GR00107-A-1	9.93	HSPB8
3	Decreased viability	GR00221-A-1	9.93	HSPB8
4	Decreased viability	GR00221-A-4	9.93	HSPB8
5	Decreased viability	GR00240-S-1	9.93	EPRS1 MIB1
6	Decreased viability	GR00249-S	9.93	HARS2 KARS1 MARS1 MIB1 PNPO
7	Decreased viability	GR00301-A	9.93	HSPB8
8	Decreased viability	GR00386-A-1	9.93	KARS1 MARS1 SPART
9	Decreased viability	GR00402-S-2	9.93	EPRS1 GARS1 KARS1 YARS1
10	Increased ionizing radiation sensitivity	GR00232-A-1	9.02	BSCL2 EPRS1 HARS1 MARS1 MIB1

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