Charcot-Marie-Tooth disease type 1A
Findings
No curated finding names Charcot-Marie-Tooth disease type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery;and pain medications.
Definition from the Mondo Disease Ontology (MONDO:0007309), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased motor nerve conduction velocityHPOHP:0003431
- Frequent (30% to 79% of cases)
- Decreased sensory nerve conduction velocityHPOHP:0003448
- Frequent (30% to 79% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 14
- Calf muscle hypertrophyHPOHP:0008981
- Occasional (5% to 29% of cases)
- Diaphragmatic weaknessHPOHP:0009113
- Occasional (5% to 29% of cases)
- Gait imbalanceHPOHP:0002141
- Occasional (5% to 29% of cases)
- KyphoscoliosisHPOHP:0002751
- Occasional (5% to 29% of cases)
- ParesthesiaHPOHP:0003401
- Occasional (5% to 29% of cases)
- Shoulder painHPOHP:0030834
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PMP22HGNC:9118
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease type 1A
- Also called
- Charcot-Marie-Tooth disease, type 1ACharcot-Marie-Tooth syndrome type 1ACMT1Ahereditary motor and sensory neuropathy 1AHMSN1Amicroduplication 17p12