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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2A1

Charcot-Marie-Tooth disease type 2A1

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Stephan Züchner
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Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1, KIF1B
    Summary: kinesin family member 1B

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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