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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2A2

Charcot-Marie-Tooth disease type 2A2

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2; Charcot-Marie-Tooth Neuropathy Type 2A2; Charcot-Marie-Tooth disease, type 2A2A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; HMSN IIA2
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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]

Available tests

74 tests are in the database for this condition.

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Clinical tests (74 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL, MFN2
    Summary: mitofusin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Molecular resources

Consumer resources

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