DISEASE SCANNER
Global Incurable Diseases Tracker
Charcot-Marie-Tooth Disease
The most common inherited neurological disorder (hereditary motor and sensory neuropathy), affecting peripheral nerves. Progressive muscle weakness and sensory loss, particularly in feet and hands. Multiple genetic subtypes.
2.8M
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Variable by type. Slowly progressive over decades. Most maintain ability to walk. Life expectancy usually normal. Significant disability in some subtypes (CMT4, CMTX with CNS involvement).
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Supportive care: orthotics, physical therapy, orthopedic surgery. No disease-modifying therapy yet for most types. PXT3003 in trials for CMT1A (most common type). Genetic counseling important. Usually normal lifespan.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.