This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Decreased motor nerve conduction velocity | 0003431 | |
| Decreased sensory nerve conduction velocity | 0003448 | |
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
| Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Pes cavus |
High-arched foot
|
0001761 |
| Sensory |
0010871 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 5%-29% of people have these symptoms | ||
| Acute demyelinating polyneuropathy | 0007131 | |
| Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
| Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
| Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ]
|
0002141 |
| Kyphoscoliosis | 0002751 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Shoulder pain | 0030834 | |
| Spontaneous pain sensation | 0010833 | |
| 1%-4% of people have these symptoms | ||
| Hyperactive deep tendon reflexes | 0006801 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0000006 | ||
| Cold-induced muscle cramps | 0003449 | |
| Decreased number of peripheral myelinated nerve fibers | 0003380 | |
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| Hammertoe |
Hammer toe
Hammertoes
[ more ]
|
0001765 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypertrophic nerve changes | 0003382 | |
| Insidious onset |
Gradual onset
|
0003587 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| 0004336 | ||
| Onion bulb formation | 0003383 | |
| 0009830 | ||
| Segmental peripheral demyelination/remyelination | 0003481 | |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| Steppage gait |
High stepping
|
0003376 |
| Ulnar claw | 0001178 | |
| 0003828 | ||
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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
