The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the pharynx | 90% |
| Abnormality of the voice | 90% |
| Decreased nerve conduction velocity | 90% |
| EMG abnormality | 90% |
| Gait disturbance | 90% |
| Hemiplegia/hemiparesis | 90% |
| Impaired pain sensation | 90% |
| Incoordination | 90% |
| Kyphosis | 90% |
| Laryngomalacia | 90% |
| Scoliosis | 90% |
| Skeletal muscle atrophy | 90% |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Charcot-Marie-Tooth disease. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I am trying to find a doctor in my area that knows something about pain management for my disease. See answer
Is there a link between pain medication prescribed for Charcot-Marie-Tooth disease (CMT), such as oxycodone, and vision loss? See answer
What kind of vision loss is associated with Charcot-Marie-Tooth disease? See answer
Have you heard anything regarding experimental stem cell or gene therapy for Charcot-Marie-Tooth disease? I would be interested in participating in experimental treatment. See answer
Can Charcot-Marie-Tooth disease cause a paralyzed vocal fold or a paralyzed laryngeal nerve? See answer
