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Neuronopathy, distal hereditary motor, type 5(DSMAV; HMN5; DSMAVA; HMN5A; DHMN5A; H...)

MedGen UID:: 318838
•Concept ID:: C1833308
•: Disease or Syndrome

Synonyms:	HMN 5A; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE V; SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VA
SNOMED CT:	Distal hereditary motor neuropathy type V (1197152005); Distal hereditary motor neuropathy type 5 (1197152005); Distal spinal muscular atrophy type 5 (1197152005); dHMN5 - distal hereditary motor neuropathy type 5 (1197152005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	REEP1, BSCL2, GARS1

Monarch Initiative:	MONDO:0100350
OMIM®:	600287; 600794
Orphanet:	ORPHA139536

Definition

Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a 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 discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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. https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v

Clinical features

From HPO

Pes planus

MedGen UID:: 42034
•Concept ID:: C0016202
•: Anatomical Abnormality

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

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Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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Hammertoe

MedGen UID:: 209712
•Concept ID:: C1136179
•: Anatomical Abnormality

Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.

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Upper limb muscle weakness

MedGen UID:: 305607
•Concept ID:: C1698196
•: Finding

Weakness of the muscles of the arms.

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Thenar muscle weakness

MedGen UID:: 330427
•Concept ID:: C1832276
•: Finding

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Peripheral neuropathy

MedGen UID:: 18386
•Concept ID:: C0031117
•: Disease or Syndrome

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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Hyperreflexia

MedGen UID:: 57738
•Concept ID:: C0151889
•: Finding

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

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Distal muscle weakness

MedGen UID:: 140883
•Concept ID:: C0427065
•: Finding

Reduced strength of the musculature of the distal extremities.

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First dorsal interossei muscle weakness

MedGen UID:: 371289
•Concept ID:: C1832277
•: Finding

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First dorsal interossei muscle atrophy

MedGen UID:: 371290
•Concept ID:: C1832278
•: Finding

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Cold-induced hand cramps

MedGen UID:: 330428
•Concept ID:: C1832279
•: Finding

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Distal amyotrophy

MedGen UID:: 338530
•Concept ID:: C1848736
•: Disease or Syndrome

Muscular atrophy affecting muscles in the distal portions of the extremities.

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Thenar muscle atrophy

MedGen UID:: 355274
•Concept ID:: C1864715
•: Finding

Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.

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Upper limb amyotrophy

MedGen UID:: 867165
•Concept ID:: C4021523
•: Disease or Syndrome

Muscular atrophy involving the muscles of the upper limbs.

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Abnormality of limbs
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Hyperreflexia
- Peripheral neuropathy

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeuronopathy, distal hereditary motor, type 5

Neuronopathy, distal hereditary motor, autosomal dominant
- Neuronopathy, distal hereditary motor, type 5

Professional guidelines

PubMed

Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L
Am J Med Genet A 2020 May;182(5):1167-1176. Epub 2020 Mar 17 doi: 10.1002/ajmg.a.61544. PMID: 32181591 Free PMC Article

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Recent clinical studies

Diagnosis

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.

Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D'Adamo P, Casari G
Neuromuscul Disord 2002 May;12(4):399-404. doi: 10.1016/s0960-8966(01)00305-4. PMID: 12062259

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Clinical prediction guides

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N
Am J Hum Genet 2001 May;68(5):1270-6. Epub 2001 Apr 4 doi: 10.1086/320122. PMID: 11294660 Free PMC Article

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MedGen

National Center for Biotechnology Information

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Neuronopathy, distal hereditary motor, type 5(DSMAV; HMN5; DSMAVA; HMN5A; DHMN5A; H...)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Clinical prediction guides

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