For those who are born with Charcot-Marie-Tooth disorder (CMT), life is not easy. Usually, the disorder progresses slowly throughout the life of the patient and causes muscle weakness and atrophy, and some loss of sensation in the feet, the lower legs, the hands and the forearms. It also often causes stiffened joints due to abnormal tightening of muscles and associated tissue. These are known as contractures. CMT can also cause scoliosis, the curvature of the spine. In severe cases of CMT, the problems go beyond the extremities into the nerves that affect the diaphragm or rib muscles. This is dangerous because respiratory impairment can result.
WHAT IS CMT DISORDER?
CMT is a neurological disorder that causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to the muscles, and relay sensations, such as pain or touch, to the brain and spinal cord from the rest of the body.
CAUSES FOR CMT DISORDER
CMT is caused by defects in the genes for proteins that affect axons of the nerves or in the genes for proteins that affect myelin, a coating on axons that insulates and nourishes them. Thirty genes or more have been associated in CMT, each one linked to a specific type of the disease. Unlike some other types of neuropathy, CMT isn’t caused by anything a person does, and it isn’t contagious. It’s hereditary; that is, it can be passed down through a family from one generation to the next.
TYPES OF CMT DISORDER
CMT can run in a family, even when there’s no obvious family history. The reason – CMT can be inherited in three different ways that aren’t always easy to trace through a family tree. The three main classifications of CMT disorder are: X-linked, autosomal dominant and autosomal recessive.
As the name states, the X-Linked form is located on the X chromosome which means that girls who inherit the disorder will have a less severe case of CMT than boys who inherit. However, because men who have the disorder have only one X chromosome, CMT cannot be passed on from father to son.
Autosomal means the mutation occurs on a chromosome other than the X or Y so the disorder will affect boys and girls equally.
- Autosomal recessive means that two copies of a defective gene are required for the full-blown disorder. One copy is inherited from each parent and neither of them would normally have the disorder.
- Autosomal dominant means one copy of a defective gene is enough to cause the disorder. A person who inherits the defective gene from a parent will have the disorder, as will the parent.
Depending on what classification of CMT, it may or may not be easy to locate the hereditary instance in the family tree. When CMT is passed on in an autosomal dominant pattern, it can be easy to recognize in the family tree. In contrast, X-linked or autosomal recessive types of CMT might seem to occur “out of nowhere.” But in reality, the mother or both parents might be carriers who silently harbor a genetic mutation. Most parents have no idea they are carriers of the disorder until they have a child with the CMT.
CMT disorder also can happen when a new mutation occurs during a child’s conception. These are called spontaneous mutations, and after they occur, they can be passed on to the next generation.
LIVING WITH CMT DISORDER
There are many people living with this disorder that continue to amaze doctors and others as well. Many have great careers and are very intelligent people. CMT does not affect the brain or the spirit of people. There are a lot of very productive, successful people with CMT — doctors and scientists, artists and singers, athletes and teachers, active teens and students. Also, children with CMT have bright futures. All those with this disorder have learned to create a balance between adapting to limitations and surroundings, and living a fulfilling life despite those limitations.
People with CMT can receive wonderful support from family and friends. Those with CMT have been involved in volunteer projects that help others with disabilities, advising them on independence and entrepreneurship, and raised public awareness about disability.
While there is no known cure for CMT at this time, there is a lot of research being performed in the hope that one day a cure or reversal or the mutative process can be discovered. There are many treatments that help with symptoms and several organizations that provide support for patients and families who are victims of this disorder.
But the best thing is the patients themselves. They are a credit to society and give a great example of triumph in spite of trials. What they have learned and try to teach is that people with disabilities are like everyone else; full of possibilities and gifts. These are the things that count.
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