Charcot-Marie-Tooth disease, type 2A
- Synonyms
- Charcot-Marie-Tooth Neuropathy Type 2A; Charcot-Marie-Tooth disease, axonal, Type 2A; Charcot-Marie-Tooth disease, neuronal, Type 2A; HMSN IIA; Hereditary motor and sensory neuropathy 2 A
Summary
Excerpted from the GeneReview: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
2 tests are in the database for this condition.
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Clinical tests (2 available)
Molecular Genetics Tests
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