U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hereditary motor and sensory neuropathy with optic atrophy

Hereditary motor and sensory neuropathy with optic atrophy

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; Hereditary Motor and Sensory Neuropathy VI; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
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
view full author information

Available tests

64 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (64 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Related genesHelp

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.