HEREDITARY NEUROPATHY

Hereditary Neuropathy & CMT — Charcot-Marie-Tooth disease is the most common inherited neuropathy, with over 100 causative genes, and gene-specific therapies are entering clinical trials.

Whole genome sequencing evaluates all CMT genes — PMP22 (including duplication/deletion), GJB1, MFN2, MPZ, and 100+ additional hereditary neuropathy genes — providing comprehensive molecular diagnosis.

PMP22
GJB1
MFN2
MPZ
GDAP1

About this condition

Hereditary Neuropathy — CMT & Genetic Testing

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, affecting approximately 1 in 2,500 individuals. CMT causes progressive distal muscle weakness and atrophy, sensory loss, and foot deformities (pes cavus, hammer toes). PMP22 duplication (1.4 Mb on chromosome 17p) causes CMT1A — approximately 70% of all CMT1 and the most common single cause of CMT. GJB1 (connexin 32) causes X-linked CMT (CMTX1), MFN2 causes CMT2A (axonal), and MPZ causes CMT1B (demyelinating).

Over 100 genes are now known to cause CMT and related hereditary neuropathies. This extreme genetic heterogeneity makes WGS particularly valuable — panel tests targeting common genes miss rarer subtypes. Molecular subtyping matters because different CMT subtypes have different progression rates, different complication risks (hearing loss in CMTX, respiratory involvement in GDAP1-CMT), and increasingly, different therapeutic approaches.

Gene-specific therapies are in clinical trials: PXT3003 (baclofen/naltrexone/sorbitol combination) for CMT1A targets PMP22 overexpression reduction. Antisense oligonucleotides (ASOs) targeting PMP22 are in preclinical development. Gene therapy approaches for specific CMT subtypes are emerging. Molecular CMT subtyping will be required for trial eligibility and eventual targeted therapy access.

Over 100 genes cause CMT — panel testing catches common subtypes but misses rare ones. WGS evaluates ALL CMT genes including PMP22 copy number, providing comprehensive molecular diagnosis for this genetically heterogeneous condition.

Gene locus: PMP22 (17p12), GJB1 (Xq13.1), MFN2 (1p36.22), MPZ (1q23.3), GDAP1 (8q21.11)

CMT has 100+ causative genes. Standard panels miss rare subtypes. Gene therapy trials require specific molecular diagnosis. WGS provides the comprehensive evaluation needed.

PMP22 duplication detection requires copy number analysis — standard sequencing may miss the most common CMT cause

CMT1A is caused by PMP22 gene duplication (not point mutations) — standard sequencing panels may miss copy number variants. WGS detects PMP22 duplication alongside point mutations in all other CMT genes, ensuring the most common cause isn't overlooked.

Gene therapy and PXT3003 trials require specific molecular diagnosis — WGS enables clinical trial access

PXT3003 is in Phase III trials specifically for CMT1A (PMP22 duplication). ASO therapies are being developed for specific genetic subtypes. As CMT gene therapies advance, molecular subtyping through WGS will determine trial eligibility and eventually guide targeted treatment selection.

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