Charcot MarieTooth Disease
Charcot MarieTooth disease or CMT, also called as hereditary motor and sensory neuropathy, is a group of inherited disorders that cause damage to peripheral nerves. The disease is named after three physicians Jean Charcot, Pierre Marie, and Howard Henry Tooth, who researched about the condition. The condition is progressive, meaning, the muscles of the arms and legs of CMT patients become weak over a period of time. CMT is a genetic disorder and is caused by many different gene mutations. Since 1991, 90 different genes causing CMT have been identified and the list continues to grow.
Signs and symptoms
CMT patients usually begin to notice symptoms in adolescence or early adulthood. Charcot MarieTooth disease affects both motor and sensory nerves and hence results into both motor symptoms (weakness and muscle wasting) and sensory symptoms such as numbness and tingling in extremities. Very rare symptoms of CMT include breathing problems, hearing loss, speech and swallowing problems.
Diagnosis and treatment
Examining patient's medical history and family history forms the basis for diagnosing Charcot MarieTooth disease. After noting down the symptoms, doctor may further order nerve conduction studies, electromyography (EMG), nerve biopsy, genetic testing and bone X-rays. Nerve biopsy might be done to check for appearance of CMT. Genetic testing is used to check for mutations that cause CMT.
CMT is not a fatal disease and people with most forms of CMT have normal life expectancy. However there is no cure for Charcot MarieTooth disease. It only needs to be managed depending upon the symptoms of the patient. Physiotherapy plays a major role in improving the condition of CMT patients. Physical therapy involving stretches and light exercises helps in building muscle strength and preventing atrophy. Depending on the symptoms, orthopaedic devices such as splints and braces may be used to maintain the mobility of the limbs. If the patients have severe foot deformity, it can be rectified through surgery to help them walk with ease. It can be supported with use of orthotics - specialized shoes.
Myopathy or muscular disease that includes muscle inflammation and muscle weakness. Myopathies affecting the skeletal muscle can have many origins - inherited, drug induced or endocrine issues. Mostly a Myopathy is transitory in nature and rarely results in complete loss of function. Muscular Dystrophy is possibly an exception in that it can be severe and sometimes even fatal if it occurs early in life.
These inherited Myopathies occur due to a genetic defect in the synthesis of a protein. There are many kinds in genetic Myopathies:
Endocrine related Myopathies : Hormone deficiency can cause Myopathies. Hyperthyroid Myopathy is the result of excess secretion of thyroxine from the thyroid gland affecting muscles in the shoulders, hips or eyes. Hypothyroid Myopathy occurs when too little hormone is secreted and results in stiffness, cramps and weakness of legs and arms muscles.
Inflammatory Myopathies : Some Myopathies result in inflamed, weakened or wasted muscles. Dermatomyositis affects the connective tissue and the severity of the affected muscle loss can result in crippling movement.
Chronic muscle inflammation is called as Myositis. It is usually caused due to allergic reaction, infectious disease or rheumatism. Sometimes Myopathies are hereditary. Symptoms of Myopathy can also include cramps, spasms and stiffness. There is progressive deterioration in muscle strength resulting in pain and fatigue on walking and tripping and falling. This is not due to nerve dysfunction. Some patients might notice facial weakness, foot drop, droopy eyelids and poor reflexes in affected muscles.
The smaller bone that runs parallel to the tibia on the outside of the lower leg is called fibula. Usually, fractures of the tibia and fibula occur simultaneously. If a person sustains only fibula fracture, it is because the side of the leg receives a direct blow, or it may be due to an extreme sideways bend at the ankle or knee. It may not cause any long-term complications, when there is a fracture of the fibula alone. If there is a fibula fracture alone:
The orthopedic will check for swelling, tenderness bruises, deformity and for any abrasions. Feeling the pulse along the length of the injured leg of the patient, the orthopedic will assess how one responds to touch. He will also check the normal muscle strength of the leg and the foot. This is to rule out any damage to the blood vessels or nerves by the sharp edge of the broken bone. To determine the blood flow to the leg accurately, the doctor might opt for specialized Doppler studies. To determine and confirm the location and the extent of severity of the fibula fracture, X-rays are conducted. Although some of the leg fractures take longer time to heal, normally the average healing time is six months.
By preventing accidents, many fractures can be avoided. Elders should encourage safe play among children. Careful driving and wearing seat belt will prevent fractures during driving. Osteoporosis is another condition that will result in fractures when a person falls.Tags: #Charcot MarieTooth Disease #Myopathy #Fibula fracture
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Bibliography / Reference
Collection of Pages - Last revised Date: September 25, 2023