How do I know if I have Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that primarily affect the peripheral nerves, typically leading to weakness and muscle atrophy in the feet, lower legs, and hands. If you suspect you have Charcot-Marie-Tooth disease, you should monitor for progressive symptoms like foot drop, high foot arches, frequent tripping, and numbness, and consult a neurologist for specialized clinical testing.

What are the early signs of Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease typically manifests gradually, often beginning in adolescence or early adulthood. The most common early signs include frequent ankle sprains, difficulty lifting the front part of the foot (foot drop), and a tendency to trip over small obstacles. Many people with Charcot-Marie-Tooth disease notice that their feet appear to have very high arches or "hammer toes," where the toes remain curled. Because this condition affects the nervous system, you may also notice cold hands and feet, or a diminished sensation of touch in your extremities.

How can I perform a self-assessment for Charcot-Marie-Tooth disease?

While only a clinician can provide a diagnosis, you can look for specific patterns that distinguish Charcot-Marie-Tooth disease from normal physical variation. Consider the following common indicators observed in our community of 1,193 members:

• Foot Drop: Does your foot drag or slap the floor when you walk?


• Muscle Wasting: Is there visible thinning in the muscles of your lower legs (often described as "stork legs") or hands?


• Balance Issues: Do you find yourself falling more often than your peers or struggling with uneven surfaces?


• Sensation Changes: Do you experience chronic burning sensations or numbness in the feet that cannot be explained by injury?


• Family History: Are there other family members who have had similar foot deformities or required orthopedic surgeries?

When should I see a doctor and what tests are used?

If you experience progressive weakness or balance issues, schedule an appointment with a neurologist. When you speak to your doctor, be specific: mention "Charcot-Marie-Tooth disease" by name, describe your history of falls, and note any family history of neurological or orthopedic conditions. Your doctor will likely refer you for electromyography (EMG) and nerve conduction studies (NCS), which measure the electrical activity of your muscles and the speed of signals in your nerves. Genetic testing is now considered the gold standard for confirming a specific type of Charcot-Marie-Tooth disease.

What are the red flags requiring urgent evaluation?

While Charcot-Marie-Tooth disease is generally a slow-progressing condition, seek urgent medical care if you experience sudden, severe weakness, significant difficulty swallowing or breathing, or an acute loss of sensation that affects your ability to walk or function. These symptoms may indicate complications that require immediate intervention by a specialist in clinical neurophysiology.

How do I advocate for myself?

If your concerns are dismissed, do not feel discouraged. Rare diseases are often overlooked in primary care. Request a referral to a neuromuscular specialist or a physiatrist. Bring a symptom log to your appointment, documenting your falls, pain levels, and any changes in your mobility. You can also cite the experiences of the 1,193 members of the DiseaseMaps.org community to illustrate that your symptoms are consistent with known clinical presentations of Charcot-Marie-Tooth disease.

Next steps

• Consult a neurologist or a neuromuscular specialist for a comprehensive clinical assessment.


• Request a referral to a podiatrist or orthopedist to address foot support and mobility aids.


• Keep a detailed diary of your symptoms, including frequency of falls and areas of numbness.


• Join the DiseaseMaps.org community to connect with others living with Charcot-Marie-Tooth disease.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific health concerns.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Charcot-Marie-Tooth disease.


• Orphanet: Rare Disease Database (ORPHA:166).


• Charcot-Marie-Tooth Association (CMTA): Clinical and patient resources.


• OMIM (Online Mendelian Inheritance in Man): Database on genetic markers for CMT.