This is a genotype with recommended actions if clinically confirmed. In brief:
- Charcot-Marie-Tooth disease type 1 is characterized by the gradual development (over many years) of muscle weakness/atrophy and sensory loss.
- Individuals with CMT should be evaluated and treated by a multidisciplinary team including neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists.
- Over 30 medications have been identified as toxic or potentially toxic to persons with CMT. Vincristine and paclitaxel (chemotherapeutic agents) pose a definite high risk of nerve damage and should be avoided by all patients with CMT, including those who are asymptomatic.
- While the penetrance of CMT1 is usually nearly 100%, the wide range in age of onset and severity may result in under-recognition of individuals with mild or late-onset disease.
The full ClinGen Actionability report about Charcot-Marie-Tooth Disease type 1 (CMT1) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.