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OVERVIEW

Autosomal RecessiveNeuropathy (Hereditary)

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Overview

From WUSTL Neuromuscular

Prevalence Hereditary neuropathies: 10 to 40 per 100,000 CMT Type 1: 15 per 100,000 CMT 1A CMT 2: ? 7 per 100,000 Most common PMP22: CMT1A GJB1: CMTX1 MPZ: CMT1B + Other MFN2: CMT2A2A + Other GDAP1: CMT2K + Other HINT1: NMAN SH3TC2: CMT4C Tissue & Functional involvement Demyelination Disorders: CMT I, III (Dejerine-Sottas), 4, HNPP, Neuropathy with focally folded myelin sheaths, Congenital hypomyelinating neuropathy Secondary axonal loss occurs Anatomical pattern: Distal > Proximal Functional consequence: Major cause of weakness Axonal: CMT type II; AR-CMT2; HMSN 5; HMSN 6 Genes producing eith

Related Conditions

Shared genes

Distal infantile spinal muscular atrophy with diaphragm paralysis (HMNR1; DSMA1; SMARD1; HMN 6)

CMT2SIGHMBP2CMT2

Distal SMA: Upper limb predominance (HMND13; HMN 5C)

EGR2 mutations: CMT 1D & Other phenotypes

HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)

Hereditary Neuropathies (CMT 1H or D-HMN) ± Macular Degeneration & Hyperelastic Skin (HNARMD)

Neuropathy: CMT Genes & Drugs

Nuclear Protein Disorders: Envelope & Matrix

Recessive, Axonal CMT

External Resources

WUSTL Neuromuscular

Washington University Disease Center

Biomedical Literature

NCBI Expert-Authored Reviews

Portal for Rare Diseases

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.