Neuropathy, hereditary motor and sensory, type 6A(HMSN6A)

MedGen UID:: 987715
•Concept ID:: CN305336
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; HMSN VIA; HMSN6A; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY

Gene (location): Gene(s) directly associated with this condition or phenotype.	MFN2 (1p36.22)

Monarch Initiative:	MONDO:0011002
OMIM®:	601152

Disease characteristics

Excerpted from the GeneReview: MFN2 Hereditary Motor and Sensory Neuropathy

MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form. [from GeneReviews]

Authors:
Stephan Züchner view full author information

Additional description

From OMIM
Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI See also HMSN6B (616505), caused by mutation in the SLC25A46 gene (610826) on chromosome 5q22, and HMSN6C (618511), caused by mutation in the PDXK gene (179020) on chromosome 21q22. For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (118200). http://www.omim.org/entry/601152

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary motor and sensory neuropathy with optic atrophy
- CROGVNeuropathy, hereditary motor and sensory, type 6A
- CROGVNeuropathy, hereditary motor and sensory, type 6B
- CROGVNeuropathy, hereditary motor and sensory, type VIc, with optic atrophy

Autosomal dominant hereditary axonal motor and sensory neuropathy
- Hereditary motor and sensory neuropathy with optic atrophy
  - Neuropathy, hereditary motor and sensory, type 6A

Recent clinical studies

Etiology

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Hum Mutat 2001;18(1):32-41. doi: 10.1002/humu.1147. PMID: 11438991

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