In US alone, the dreadful Charcot Marie Tooth disease affects about 150,000 people. Basically, CMT is a condition of the brain that progresses from your nervous system to your body muscles. It affects brain, nerves outside the spine and the peripheral ones. Interestingly, the disorder is hereditary and runs in the family. If you find the name a bit weird, you should know that it is a reference to the three doctors who discovered the disease in 1886 – Pierre Marie, Howard Henry Tooth and Jean-Martin Charcot.
In fact, it is also called by other names like Charcot-Marie-Tooth Neuropathy, Hereditary Sensorimotor Neuropathy, Morbus Charcot-Marie-Tooth, Hereditary Motor, Sensory Neuropathy, Progressive Neuropathic Muscular Atrophy and Hereditary Peroneal Nerve Dysfunction.
Types of Charcot Marie Tooth Disease
- CMT Type 1 accounts for 1/3rd of CMT cases. Evidently, it is commonest of all CMT types and it is autosomal dominant. This type of CMT primarily causes anatomic changes which affects the myelin sheath and results in demyelination.
- CMT Type 2 affects 20-40% of CMT patients. It disturbs the axon and like Type 1, it too is autosomal dominant in nature but it is less acute than type 1.
- CMT Type 3 has less patients; it is autosomal recessive.
- CMT Type 4 affects not a lot of people, just like Type 3. If a child inherits two mutant genes, only then he gets this disease. It is autosomal recessive too.
- CMT X-Linked afflicts 10-20% of CMT patients and is associated with connexin 32 gene mutation. It is a dominant condition.
Symptoms Charcot Marie Tooth Disease
The first few symptoms are observed on the feet – there is acute pain in the feet; some patients have flat feet and as it progresses, hammer toes are detected. Nerves that fuel movement, Motor Nerves, are affected by CMT. This degenerate condition weakens limbs muscles and people find it hard to walk and move. Disorientation in the sense of balance, difficulty in running, weakening hand muscles and trouble in performing easy tasks like opening door are seen. Patients are unable to feel basic sensations like burning or scalding. Lumps, blisters or ulcers might also develop on feet and hands. Beginning with the feet, the symptoms can affect the upper body – they are not restricted to the feet.
Between mid-childhood and adulthood, the following discomforts are experienced by the patients:
- Inability to run
- Numbness in legs and feet
- Foot drop
- High arch of feet
- Skinny calves
- Weakness in legs, feet and ankles
- Slapping gait
Causes of Charcot Marie Tooth Disease
Charcot-Marie-Tooth disease is caused by genetic mutations which are hereditary. It is a group of disorders that is passed down by families. Patients inherit the gene in either dominant or autosomal recessive manner. The genetic mutations are observed in genes involved with structure as well as function of nerves in the arms, legs, feet and hands. Sometimes, nerves are damaged by these mutations while in other cases protective coating around the nerve is destroyed. People who suffer from CMT stumble and fall because of the inability of feet muscles – they don’t receive signals from the brain telling them to contract. Brain doesn’t get messages when there is acute aching in the foot and they may have blister on the toes and won’t be aware of it.
Diagnosis and Treatment Charcot Marie Tooth Disease
For this is a neurological condition, it is diagnosed by a neurologist. If you have CMT symptoms, your doctor is likely to run some tests to detect it. Physical exam and diagnostics tests confirm the presence of CMT so they are conducted as per the doctor’s instructions. The physical test helps in determining abnormalities like difficulties in stretching the toes, lifting the foot, thickened nerve clumps underneath the leg skin and loss of muscle control in leg or foot. Nerve conductions are carried out to differentiate between various disorders. Nerve conduction tests evaluate speed and intensity of electric impulses which are transmitted by the nerves. To carry out the test, electrodes are placed on the skin and electric shocks of low intensity are given to stimulate the nerves. Weak response indicates the presence of nervous conditions like CMT.
There are other tests that are recommended to get to the bottom of the disease and find out its severity and cause. Electromyography, for example, can tell to what extent CMT has spread by examining the muscles. Moreover, Nerve Biopsy is also performed to confirm CMT – it’s a simple procedure in which a nerve sample of the patient is examined in a lab. Other than that, genetic testing, which is done by analysing blood sample of a patient, helps in determining the genetic cause of the disease.
Unfortunately, there is no cure for CMT yet but there are some treatments that the doctors use to ease the symptoms. These include:
- Surgery – orthopaedic foot surgery is performed by doctors to reduce the pain, correct foot deformities and make it easier to walk but it can’t bring back lost sensation and treat the weakness.
- Therapy – Physical and occupational therapy helps limbs in working independently, increases muscle strength; the stretching techniques and low-effect exercises postpone nerve weakening and decreases muscle fatigue.
- Medications – Pain may not appear to be a problem in some patients but they do suffer from nerve damage and muscle cramps. In that case, prescribed medicines prove beneficial as they control these difficulties.
- Orthopaedic Devices – There are orthopaedic devices such as splints, high toe shoes and braces that can help improve stability, prevent injury and recover gait.
Risks and Complications of Charcot Marie Tooth Disease
This condition is hereditary which means that anyone in the world can get it. Anyone in the world can suffer from it if they have a family history of this condition. Another thing is that CMT is aggravated and caused because of conditions like Diabetes too.
The complications depend on the patients but mainly they find it difficult to walk and get foot deformities. Other than that, they could suffer injuries to the areas with reduced sensation and progressive weakness in the muscles of the body. CMT slowly progresses, numbs parts of the body and causes pain, mild to severe. Muscles of the body stop working because there is no stimulus from body’s nerves as they the nerves in the limbs deteriorate. Eventually, the sufferers of the disease get disabled – they lose use of their limbs as the arms, legs and hands don’t work normally any longer.
Prevention and Management of Charcot Marie Tooth Disease
As of today, there is nothing in medicine that can help prevent this condition. However, if you know that CMT has prevalence in your family, you should consider genetic counselling. Genetic tests, as advised by your counsellor, can evaluate the condition and might even be able to control or prevent the illness.
Taking care of your feet can give you relief from the painful symptoms as the disorder is caused by foot deformities and decrease in sensation. A few helpful tips include: washing your feet with clean water and apply moisturizer to keep your skin moist; cutting the toe nails frequently without making any cuts on the edge so as to avoid infections and ingrown toenails; and most importantly, wearing shoes that fit you nicely and also give you space to be comfortable (protective boots and high top shoes work amazingly).
If you detect the symptoms of this illness, you should consult a doctor because early treatment can prevent further deterioration of the symptoms.