Charcot-Marie-Tooth disease in short form is a genetic nerve disorder that impacts about 1 in 2,500 individuals in the United States. This condition leads to muscle weakness, especially in the hands and legs.
CMT impacts the peripheral nerves, which are the nerves on the external side of the central nervous system. These nerves control muscle movements and send sensory information from the hands and to the brain from the legs, helping us feel touch. CMT is a progressive disease, meaning the symptoms gradually get worse in time.
Despite its effects, most individuals with CMT live a normal life cycle.
Symptoms
Charcot-Marie-Tooth disease often manifests during early adulthood or adolescence. The main symptoms include eventual wasting and muscle weakness in the hand, forearm, lower leg, and foot as well as absence of sensation in the fingers, limbs, and toes.
Additional symptoms can involve malformations in the feet’s muscles, such as hammer toes and high arches, trouble utilizing the hands, problems with balance, and unstable ankles. Cramping in the forearms and lower legs, hearing loss and some vision, scoliosis, and decreased reflexes are also possible. The severity of signs can vary significantly in the middle of people, even among close relatives who have acquired the condition. In the early stages, the symptoms may be so mild that individuals may not realize they have CMT.
Causes
CMT is a hereditary condition, meaning it runs in families. If you have family members with this condition, you have a higher chance of getting it yourself.
CMT impacts the nerves of the peripheral, which are the nerves outside the brain and spinal cord. These nerves have two main parts: the axon, that is the inner core of the nerve, and the myelin sheath, that is the protective covering around the axon. Depending on the type of CMT, the disease can damage the myelin sheath, the axon, or both. This damage disrupts the nerves’ ability to send signals effectively, leading to the muscle weakness and sensory loss characteristic of the condition.
Diagnosis
To diagnose CMT, a physician will start by asking about the patient’s family history and looking for signs of weakness of muscle, decreased muscle tone, high foot, or flat foot arches. If CMT is suspected, the patient will be referred to a geneticist and a neurologist for further testing.
Electromyography
During an EMG, a needle is inserted into the muscle. The electrical activity is measured as the patient tightens or relaxes the muscle. By testing different muscles, the healthcare provider can determine which ones are impacted.
Nerve Conduction Studies
These tests measure the speed and strength of electrical signals passing over the nerves. The device known as electrodes positioned on the skin send small electric pulses to activate the nerves. A weak or delayed response indicates a nerve disorder and may suggest CMT.
Nerve Biopsy
A small piece of nerve tissue is taken from the calf and sent to a lab for testing. This helps to confirm the diagnosis by examining the nerve tissue under a microscope.
Genetic Testing
A sample of blood is taken to identify whether the patient holds the faulty genes or genes associated with CMT. This can confirm the diagnosis and help determine the specific type of CMT.
Treatment
While there is no permanent treatment for Charcot-Marie-Tooth disease, treatments can help alleviate signs and delay the onset of physical disorders.
Medications
Non-steroidal anti-inflammatory drugs, like ibuprofen, can decrease muscle pain and joints, including pain-activated damaged nerves. If NSAIDs are ineffective, tricyclic antidepressants may be recommended. Although TCAs are primarily utilized to treat depression, they can also alleviate pain, though they may have severe reactions.
Therapies
Physical therapy involves low-impact exercises to stretch and strengthen muscles, helping to keep muscle strength and prevent tightening. Occupational therapy can assist patients with finger movements and gripping difficulties, which can hinder daily work.
Assistive Devices
Orthopedic devices, splints, or braces can assist individuals to stay moving and stop injuries. Shoes with special boots or high tops give more ankle support, while special shoes or inserts can enhance gait.
Cognitive and Psychological Support
It can help patients cope with everyday challenges and manage depression if it arises.
Surgical Options
Surgery may be an option to fuse bones in the feet or eliminate part of a tendon to relieve pain and make walking uncomplicated. It can also correct flat feet, alleviate joint pain, and fix heel deformities. Individuals with scoliosis, or spine curvature, may require a back brace and, in some cases, surgery.
Through a combination of these treatments, individuals with CMT can manage their symptoms and maintain a better quality of life.
Complications
Individuals with Charcot-Marie-Tooth disease may face various complications.
Breathing can become troublesome if CMT impacts the nerves that regulate the diaphragm, the muscle that helps with breathing. In such cases, the patient might require medication to help open up the airways (bronchodilators) or even a ventilator to assist with breathing. Being obese or overweight can worsen these breathing problems.
Living with a progressive disease like CMT can cause significant mental anxiety, stress, and frustration, potentially leading to depression. Coping with the physical challenges and the emotional impact of the disease can be very tough, making mental health support crucial.
Outlook
The Charcot-Marie-Tooth disease generally does not impact an individual’s life cycle, however, the outlook varies depending on the severity of the condition.
For example, individuals with CMT1 may experience such mild symptoms that they might not even realize they get the condition.
Although there is no cure for CMT, certain measures can help prevent further complications. These include taking care of feet to decrease the risk of infection and injury, avoiding tobacco and caffeine, and restricting alcohol consumption.
Support and assistance are available from organizations like the Charcot-Marie-Tooth Association, which can provide resources and guidance for managing the condition.
Summary
Charcot-Marie-Tooth disease is a genetic disorder affecting the peripheral nerves, leading to muscle weakness and sensory loss. Symptoms often appear in early adulthood or adolescence and can vary widely between individuals. Although there is no cure, treatments like NSAIDs, physical therapy, and assistive devices can help manage symptoms and improve quality of life. Complications may include breathing difficulties and mental health issues such as depression. The outlook is generally positive, as CMT usually does not impact lifespan, with some people experiencing mild symptoms and requiring minimal intervention. Support is available from organizations like the Charcot-Marie-Tooth Association.
