How does Charcot-Marie-Tooth disease affect the Body?- Dr Kishore Kotha
Bgs Gleneagles Global Hospitals
Uttarahalli, Bengaluru Feb 1, 2018
What is Charcot-Marie-Tooth disease?
It is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named after the three physicians who first identified it in 1886- Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. Disorders that affect the peripheral nerves are called peripheral neuropathies.
It is an inherited, genetic condition, it occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.
Sometimes, these mutations damage the nerve. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. That means some of the muscles in your feet may not receive your brain’s signal to contract, so you are more likely to trip and fall, and your brain may not receive pain messages from your feet, so if you have rubbed a blister on your toe, for example, it may get infected without realizing it.
- Weakness in your legs, ankles and feet
- Loss of muscle bulk in legs and feet
- High foot arches
- Curled Toes
- Decreased ability to run
- Difficulty lifting your foot at the ankle
- Awkward or higher than normal step
- Frequent tripping or falling
- Decreased sensation or a loss of feeling in your legs and feet
A physical exam is done to check for:
- Signs of muscle weakness in your arms, legs, hands and feet.
- Decreased muscle bulk in your lower legs.
- Reduced reflexes.
- Sensory loss in your feet and hands.
- Foot deformities, such as high arches or hammertoes.
- Other orthopaedic problems, such as mild scoliosis or hip dysplasia.
The doctor may recommend tests, which can help provide information about the extent of your nerve damage and what may be causing it.
- Nerve conducting studies
- Electromyography (EMG)
- Nerve biopsy
- Genetic testing
There is no cure for this disease. There are some treatments that will help to manage Charcot-Marie-. Tooth disease.
It sometimes causes pain due to muscle cramps or nerve damage, so pain medication may help control your pain.
Physical therapy: it can strengthen and stretch your muscles to prevent muscle tightening and loss.
Occupational therapy: Weakness in the arms and hands can cause difficulty with gripping and finger movements, such as fastening buttons or writing. This therapy can help through the use of assistive devices, such as special rubber grips on doorknobs or clothing with snaps instead of buttons.
Orthopaedic devices: Many people with this disease require the help of certain orthopaedic devices to maintain everyday mobility and to prevent injury. Leg or ankle braces or splints can provide stability during walking and climbing stairs.
If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation.