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)|
|Autosomal dominant inheritance||-|
|Cold-induced muscle cramps||-|
|Decreased number of peripheral myelinated nerve fibers||-|
|Distal muscle weakness||-|
|Distal sensory impairment||-|
|Foot dorsiflexor weakness||-|
|Hypertrophic nerve changes||-|
|Onion bulb formation||-|
|Segmental peripheral demyelination/remyelination||-|
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.
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.
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
My daughter's father was diagnosed with CMT1A in childhood. My daughter is very active and we decided to not have her tested, unless she shows symptoms. I have noticed that her hands sometimes shake. Should this be a concern? Also she walks on her tip toes. She has since she started walking. However I did too as a child and I don't have the disease. Her father has stated that he has never been physically able to walk on his toes even as a child. I read so many things on the internet and it's so confusing. Her feet do not look abnormal. Anyway I was just wondering about the toe walking and the hands shaking sometimes. See answer
Do people with CMT type 1A relapse or does the illness just progress to a more advanced stage? I am aware that it is progressive. I have not read or heard of relapses in this disease, but as it is similar to MS, wondered whether this is a possibility or whether the illness itself is progressing and I will therefore have to learn to accept it. I have experienced periods similar to this but never as extreme. See answer