Neuronopathy, Distal Hereditary Motor, Type Va (HMN5A)

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Disease Ontology 12 DOID:0111203 DOID:0111204 DOID:0111214 OMIM 56 600794 MeSH 43 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

Genetics Home Reference : ²⁵ 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 tooth disease. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS1 (Glycyl-TRNA Synthetase 1). Affiliated tissues include spinal cord, and related phenotypes are upper limb muscle weakness and thenar muscle atrophy

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.

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.

More information from OMIM: 600794

Clinical features from OMIM:

600794

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