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Recessive, Axonal CMT

Autosomal RecessiveX-LinkedNeuropathy (Hereditary)

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Overview

From WUSTL Neuromuscular

AR-CMT2A: Lamin A/C; 1q22 AR-CMT2B: MED25; 19q13.3 AR-CMT2 + Hoarseness (CMT 2K): GDAP1; 8q21 AR-CMT2, Severe & Early onset: NEFL; 8p21 AR-CMT2/Distal HMN: HSPB1; 7q11-q21 AR-CMT2: LRSAM1; 9q33 AR-CMT2-Acrodystrophy AR-CMT2-Ouvrier: Early childhood onset AR-CMT2 + Neuromyotonia: HINT1; 5q31 Andermann (Corpus callosum Δ): 15q13 CMT X-linked HMSN + CNS: Heterogeneous Giant axonal neuropathy: Gigaxonin; 16q24 HMSN + Deafness HMSN + Optic neuropathy ± Deafness Lethal Neonatal Neuroaxonal dystrophy

Related Conditions

Shared genes

Axon: Transport

NUDELJNKSYNAPTIC

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

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.