Charcot-Marie-Tooth disease is a set of hereditary neurological illnesses. The majority of the injury is to the arms and legs (peripheral nerves). Hereditary motor and sensory neuropathy is another name for Charcot-Marie-Tooth illness.
Muscles become smaller and weaker as a result of this condition. You may also have numbness, muscular spasms, and difficulties walking. Common foot abnormalities include hammertoes and high arches. Symptoms normally start with the feet and legs, but they might spread to your hands and arms.
Symptoms of Charcot-Marie-Tooth disease usually appears in adolescent or early adulthood, although it can also emerge in middle age.
WHAT ARE THE SYMPTOMS OF CHARCOT-MARIE-TOOTH DISEASE?
Among the signs and symptoms of Charcot-Marie-Tooth disease are:
- Legs, ankles, and feet weakness
- Muscle mass loss in your legs and feet
- High arches in the feet
- Step that is awkward or higher than usual (gait)
- stumbling and falling frequently
- Curled toes (hammertoes)
- Reduced ability to run
- Difficulty raising your foot at the ankle (footdrop)
- Reduced or complete loss of sensation in your legs and feet
Symptoms of Charcot-Marie-Tooth disease may move from the feet and legs to the hands and arms as the disease advances. The degree of symptoms can vary widely between people, even between families.
WHAT ARE THE CAUSES OF CHARCOT-MARIE-TOOTH DISEASE?
Charcot-Marie-Tooth disease is a hereditary, genetic disorder. It happens when there are gene changes that impact the nerves in your feet, legs, hands, and arms.
These mutations can sometimes cause nerve injury. Other mutations cause harm to the nerve's protective layer (myelin sheath). Both result in weaker information being sent between your limbs and brain.
WHAT ARE THE RISK FACTORS FOR CHARCOT-MARIE-TOOTH DISEASE?
Because this condition is inherited, you are more likely to get it if someone in your immediate family has it.
Other neuropathies, such as diabetes, can mimic Charcot-Marie-Tooth disease symptoms. These additional disorders can aggravate the symptoms of Charcot-Marie-Tooth disease. Medications such as vincristine (Marqibo), paclitaxel (Abraxane), and others might exacerbate symptoms. Make sure your doctor is aware of any drugs you are taking.
WHAT ARE THE COMPLICATIONS OF CHARCOT-MARIE-TOOTH-DISEASE?
The degree of Charcot-Marie-Tooth disease complications varies from person to person. The most significant issues are frequently foot deformities and trouble walking. Muscles may become weaker, and you may hurt portions of the body with reduced feeling.
When the muscles in your feet do not get the signal from your brain to contract, you are more prone to trip and fall. Furthermore, your brain may not get pain signals from your feet, so if you rubbed a blister on your toe, for example, it may become infected without your knowledge.
If the muscles that govern these tasks are damaged by Charcot-Marie-Tooth illness, you may also have trouble breathing, swallowing, or speaking.
HOW IS CHARCOT-MARIE-TOOTH DISEASE DIAGNOSED?
Your doctor may look for the following things during the physical exam:
- Muscle weakness in the arms, legs, hands, and feet
- High arches or hammertoes, which are examples of foot abnormalities.
- Reduced muscular density in your lower legs, giving the look of an inverted champagne bottle
- Decreased reflexes
- Sensory loss in your hands and feet
- Other orthopedic issues, which include minor scoliosis and hip dysplasia.
Your doctor may also order the following tests to assist determine the amount of your nerve damage and what is causing it.
- Nerve conduction studies: These tests assess the intensity and speed with which electrical signals travel through your nerves. To activate the nerve, electrodes on the skin give mild electric shocks. Responses that are delayed or feeble may suggest a nerve illness such as Charcot-Marie-Tooth disease.
- Electromyography (EMG): A tiny needle electrode is introduced into the muscle through your skin. Electrical activity is monitored when you relax and tense the muscle softly. By evaluating various muscles, your doctor may be able to assess the spread of the condition.
- Nerve biopsy: Through an incision in your skin, a little portion of peripheral nerve is extracted from your leg. Charcot-Marie-Tooth disease is distinguished from other nerve illnesses by laboratory study of the nerve.
- Genetic testing: These tests utilize a blood sample to detect the most frequent genetic abnormalities known to cause Charcot-Marie-Tooth disease. Genetic testing may provide more information for those with the disease in terms of family planning. It can also be used to rule out other neuropathies. Genetic testing has become more inexpensive and thorough as technology has advanced. Before testing, your doctor may recommend you to a genetic counselor to help you understand the advantages and risks.
WHAT ARE THE TREATMENTS FOR CHARCOT-MARIE-TOOTH DISEASE?
Charcot-Marie-Tooth disease has no known treatment. However, the condition normally advances slowly and has little effect on projected life duration.
There are several therapies available to assist you in managing Charcot-Marie-Tooth disease.
Medications
Charcot-Marie-Tooth disease can produce pain as a result of muscular spasms or nerve injury. If you suffer from discomfort, prescription pain medication may help you manage it.
Therapy
- Physical therapy: To avoid muscular stiffness and atrophy, physical therapy can help you strengthen and stretch your muscles. Low-impact exercises and stretching techniques are often included in a program that is directed by a certified physical therapist and authorized by your doctor. Physical therapy, when started early and maintained on a regular basis, can help avoid disability.
- Occupational therapy: Weakness in the arms and hands can make grasping and finger motions difficult, such as fastening buttons or writing. Assistive equipment, such as special rubber grips on doorknobs or clothes with snaps instead of buttons, can be used in occupational therapy.
- Orthopedic devices: Many persons with Charcot-Marie-Tooth illness require the assistance of orthopedic equipment to maintain daily movement and avoid damage. While walking and ascending stairs, leg and ankle braces or splints can give stability.
Consider wearing boots or high-top shoes for extra ankle support. Your gait may benefit from custom-made shoes or shoe inserts. If you have hand weakness and difficulties grasping and holding items, you should consider using thumb splints.
Surgery
Corrective foot surgery may help relieve discomfort and improve your ability to walk if your foot abnormalities are severe. Surgery will not help with weakening or loss of feeling.
Future treatment options
Researchers are looking at a variety of possible medicines that might one day be used to treat Charcot-Marie-Tooth disease. Potential treatments include drugs, gene therapy, and in vitro procedures that may help prevent the condition from being passed down to future generations.
HOME REMEDIES FOR CHARCOT-MARIE-TOOTH-DISEASE
Some practices can help you avoid problems caused by Charcot-Marie-Tooth illness and manage its symptoms.
When begun early and maintained on a regular basis, at-home activities can give both protection and relief:
- Stretch frequently: Stretching can help you enhance or maintain your joint range of motion and lower your risk of injury. It also aids in the improvement of flexibility, balance, and coordination. Regular stretching can help prevent or minimize joint abnormalities caused by unequal muscular pulling on your bones if you have Charcot-Marie-Tooth disease.
- Exercise every day: Regular exercise strengthens your bones and muscles. Low-impact workouts, such as riding and swimming, are gentler on the body's muscles and joints. You may enhance your balance and coordination by strengthening your muscles and bones, lowering your chance of falling.
- Increase your stability: Muscle weakness caused by Charcot illness might make you unstable on your feet, leading to falls and serious damage. Walking with a cane or walker can help you gain stability. Night lights might assist you prevent stumbling and falling.
Foot care is essential
Because of foot abnormalities and lack of feeling, consistent foot care is essential for symptom relief and prevention of complications:
- Examine your feet: Check them on a daily basis to avoid calluses, ulcers, sores, and infections.
- Maintain your nails: Regularly trim your nails. Cut straight across and avoid cutting into the nailbed margins to avoid ingrown toenails and infections. If you have circulation, feeling, or nerve loss in your feet, a podiatrist can cut your toenails for you. Your podiatrist may also be able to recommend a salon where you may get your toenails securely trimmed.
- Wear appropriate footwear: Choose shoes that fit well and are protective. For ankle support, consider wearing boots or high-top shoes. If you have a foot deformity, such as a hammertoe, consider having bespoke shoes manufactured.