Charcot Marie Tooth disease, also known as CMT, refers to a group of neurological diseases of genetic order, so hereditary. It affects certain parts of the spinal cord, including the nerves connecting it to the muscles, causing motor disorders and difficulty in walking. These pathologies usually manifest themselves in childhood or adolescent years. The disease is progressive and disabling but does not affect life expectancy. It should not be confused with Charcot’s disease, a form of very serious sclerosis that can be life-threatening.(1)
According to the National Institute of Neurological Disorders and Stroke, Charcot Marie Tooth is one of the most common inherited neurological disorders, affecting 1 in 2,500 people in the United States.(2)
What Are The First Symptoms Of Charcot Marie Tooth?
The symptoms of Charcot Marie Tooth usually occur during adolescence but the disease mostly progresses in the middle age. Charcot Marie Tooth affects the nerves that control your voluntary muscle activity. The most common feature of Charcot Marie Tooth is the significant degradation of limbs and especially calf muscles. The patient develops “stork legs”. The legs tend to weaken in front near the extremities. Symptoms and their severity can vary considerably between patients, even with close relatives who have inherited the condition. In the early stages, people may not know that they have Charcot Marie Tooth because the symptoms are mild.
The symptoms are progressive and evolve slowly over time. The disease begins with insensitivity and weakening of the muscles of the foot and leg in the calf region, which then extends to hands and arms. This often results in the child’s delay in walking, muscle cramps, running difficulties, frequent falls, and waddling. The feet become hollow and slightly deformed, and muscular atrophy in the legs is visible and they are palpable to the touch.
A child with Charcot Marie Tooth can:
- Be awkward than their peers and more prone to accidents
- Have unusual steps because of the difficulty of lifting the feet off the ground with each step
- Have feet that fall forward as they raise their feet
Other symptoms often occur when the child ceases puberty and enters adulthood. But they can appear at any age from the very young to the late 70s.
Common symptoms include:
- Weakness in the muscles of the lower feet, legs, and ankles
- Ankles grow unstable because the feet become very arched or less often very flat
- Curved toes, known as “hammertoes”
- Foot drop, or difficulty lifting the foot because of weak ankle muscles
- Walking steps higher than normal
- Numbness in the arms and feet
- Change in leg shape, the leg under the knee is very thin, while the thighs retain their normal muscle volume and shape.
In time, the following can happen:
- The hands and arms are getting weaker
- It becomes more difficult to use hands, for example, to make buttons or open bottle caps
- There are muscle and joint pains, as problems with walking and posture put a strain on the body
- Neuropathic pain results from damaged nerves
- General walking and mobility problems occur especially in older patients
In severe cases, the patient may need a wheelchair while others may use a leg brace, special shoes or other orthopedic devices. As the Charcot Marie Tooth progresses, difficulties in moving the fingers, hands, wrists, feet, and tongue may occur.(2) (3)
How Do You Test For Charcot Marie Tooth?
There are certain tests to diagnose Charcot Marie Tooth and degree of nerve damage and possible causes. These tests may include a nerve conduction study, electromyography, nerve biopsy, and genetic testing.
A nerve conduction study can test the function of electrical signals in your nerves. During this test, a neurologist puts small electrodes on your skin. Then they will transfer a small amount of electricity to the electrodes. A weak answer may indicate Charcot Marie Tooth.
An electromyography test (EMG) is performed by inserting a thin needle into one of your muscles. This needle is attached to a wire connected to a machine. Your doctor will ask you to flex and then relax your muscles as the machine measures the electrical activity of your muscle.
A nerve biopsy is performed by a surgeon. This procedure involves removing a piece of nerve from your calf for testing. This nerve test is examined for the appearance of Charcot Marie Tooth.
Genetic tests are used to look for defects in the genes that cause Charcot Marie Tooth. This is done with a sample of your blood.(4) (5)
Charcot Marie Tooth is a genetic disorder affecting the nerves connecting it to the muscles, causing motor disorders and walking. These pathologies usually manifest themselves in childhood or adolescence. The disease is progressive and very disabling but not life-threatening. Early diagnosis of the symptoms helps patients cope with the disease better.
- Foley C, Schofield I, Eglon G, Bailey G, Chinnery PF, Horvath R. Charcot–Marie–Tooth disease in Northern England. J Neurol Neurosurg Psychiatry. 2012;83(5):572-573.
- Bernstock J, Cohen J, Singh S, et al. Treatment-induced remission of medulloblastoma using a chemotherapeutic regimen devoid of vincristine in a child with Charcot–Marie–Tooth disease. Current Oncology. 2019;26(2):e266.
- Khadilkar SV, Yadav RS, Patel BA. Charcot–Marie–Tooth Disease. Neuromuscular Disorders: Springer; 2018:421-439.
- Barreto LCLS, Oliveira FS, Nunes PS, et al. Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review. Neuroepidemiology. 2016;46(3):157-165.
- Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. The Lancet Neurology. 2009;8(7):654-667.
- Classification Of Charcot Marie Tooth Disease
- How Common Is Charcot Marie Tooth Or Is It A Rare Disease?
- How Dangerous Is Charcot Marie Tooth & Is It Contagious?
- Is Charcot Marie Tooth Disease A Disability?
- Is There A Surgery For Charcot Marie Tooth Disease?
- Coping Methods For Charcot Marie Tooth Disease
- How To Diagnose Charcot Marie Tooth & What Is The Best Medicine For It?