Advertisement

What are the symptoms of Charcot-Marie-tooth disease (CMT)?

CMT causes clumsiness when walking or tripping, unsteadiness, foot deformities, numbness or cold sensations, cramps and weakness in the hands and feet.
The neuropathy of CMT affects both motor and sensory nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills.
The onset of symptoms is most often in adolescence or early adulthood; however, the presentation may be delayed until mid-adulthood. The severity of symptoms is quite variable in different patients and even among family members with the disease. The progression of symptoms is gradual. Pain can range from mild to severe, and some patients may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases patients may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

Continue Learning about Genetic Disorders

Warning Signs of a Hereditary Angioedema Attack
Warning Signs of a Hereditary Angioedema Attack
Hereditary angioedema, also called HAE, is a rare genetic disorder that affects an estimated 6,000 to 10,000 people in the United States. People who h...
Read More
Must-Know Facts About Mitochondrial Disease
Must-Know Facts About Mitochondrial Disease
If there’s one thing you remember from high school biology, it’s probably this: Mitochondria are the powerhouses of the cells. It stands to reason tha...
Read More
Can I get genetic testing for hereditary hemorrhagic telangiectasia (HHT)?
Society of Interventional RadiologySociety of Interventional Radiology
There are a few research centers in the United States that offer genetic testing for hereditary hemo...
More Answers
What are the symptoms of a urea cycle disorder (UCD)?
Jumo HealthJumo Health
Symptoms of a urea cycle disorder (UCD) occur because of the buildup of ammonia in the brain. Sympto...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.