Charcot-Marie- Tooth disease (CMT) is not a disease of the teeth. It is a genetic (inherited) nerve disease that affects the health and function of your nerves in your extremities, including your feet, legs, hands, and arms.
These nerve-signaling issues between the brain and body parts have an impact on your sensory nerves (nerves that signal cold and hot, soft and hard) and motor functioning abilities. CMT is named after the three doctors who described the disease for the first time in 1886. 1
Prevalance
CMT affects an estimated 126,000 people in the United States and 2.6 million people worldwide, according to the National Institute of Neurological Disorders and Stroke.
2 As a result, it is one of the most prevalent inherited neurological disorders.
This article will look at the symptoms and causes of CMT, how to get a diagnosis, what treatment options are available to people with CMT, what to expect if you have CMT, and expert tips for coping with this genetic nerve disease.
Symptoms of Charcot-Marie-Tooth Disease
Tooth decay affects the legs, feet, hands, and arms. They can consist of the following:
- Muscle weakness in the lower legs and foot (which can result in “foot drop,” or difficulty lifting your foot while walking)
- Foot structural differences such as high arch, flat feet, and hammertoe (a toe excessively bent at the middle joint)
- Muscle loss in the hands, wrists, feet, and ankles
- Numbness, discomfort, and pain in your hands and feet, including joint and muscle pain
- Loss of hand and foot temperature sensation
Causes
CMT is caused by genetic mutations, which can occur for a variety of reasons and in a variety of ways. People with CMT may have inherited the genetic mutations from their biological parents in some cases. In some cases, genetic mutations occur spontaneously during pregnancy and are then passed down to any future biological children.
CMT is caused by over 40 different genes. Each person’s risk factors for inheriting and passing down genetic mutations associated with CMT are unique.
In some cases, for example, only one copy of the genetic mutation from either biological parent is required to inherit the disease. A child with a biological parent who has CMT has a 50% chance of inheriting the disorder.
Diagnosis A CMT diagnosis usually begins with a conversation between a patient and their healthcare provider. It typically entails the following:
- Medical background -Family background
- Neurological and physical examinations (particularly of feet and legs and hands and arms)
If you are experiencing symptoms or are nervous, overwhelmed, or disorganized as a result of the stress of preparing for your medical appointment, you may want to bring a friend or family member to take notes or ask questions on your behalf.
Following that, the healthcare provider may suggest additional testing, such as:
- Nerve conduction studies or electromyography (EMG) to determine if symptoms are affecting nerves, muscles, or the nerve-muscle connection.
- Genetic testing combined with a blood test to help determine your likelihood of CMT symptoms.
- In rare cases where other tests were inconclusive, a nerve biopsy (testing a sample of the nerve) from your leg area may be performed.
Complications Nerve problems can cause complications. These include slip and fall injuries caused by muscle weakness in the legs and feet, as well as infections in the feet that can go untreated due to a lack of typical pain sensation signaling or temperature sensations. 3 Seeking medical attention can help you avoid complications.
Treatment
There is no cure for CMT, but there are ways to reduce symptoms and improve your quality of life. Treatment options for CMT include:3
- Physical therapy to stretch nerves and strengthen muscles to help with weakness and numbness -Occupational therapy to help you exercise motor skills and adapt to daily tasks
- Orthopedic devices, such as wearing ankle braces, splints, or high-top boots for added ankle support -Medications to reduce pain sensations, if necessary
Coping
Coping with any type of nerve problem that causes pain and limits mobility is difficult not only physically, but also mentally. Reaching out for peer and mental health support can be part of coping with CMT. You might start by going to the National Organization for Rare Diseases’ Charcot-Marie-Tooth Association (CMTA) (NORD).
Accepting a recent diagnosis is understandable and normal. It may be beneficial to consult with a trained mental health professional.
Summary
Charcot-Marie Tooth Disease is a nerve-related genetic condition. Symptoms include weakness, pain, and sensory issues, which cause difficulties with motor skill functioning. While there is no cure, there are treatments that can help CMT patients live a healthy life.
These include physical therapy to increase strength and slow disability, occupational therapy and mobility devices, and pain medications. Support groups and therapy may also help you cope with Charcot-Marie-Tooth disease if you are interested.
Erin Balsa is a highly skilled and knowledgeable health journalist with a passion for educating the public on important health and wellness topics. With extensive experience in both traditional and digital media, Erin has established herself as a trusted voice in the field.