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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.


  • Muscle weakness leading to Foot Drop

  • High-stepped gait

  • Frequent tripping and falling

  • Stork-like legs due to muscle atrophy

  • Dropping things

  • Clumsiness

  • Bone deformities

  • Hammertoes and High arches

  • Decreased deep tendon reflexes

  • Sensory loss

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

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.


Genetic Myopathies

These inherited Myopathies occur due to a genetic defect in the synthesis of a protein. There are many kinds in genetic Myopathies:


  • Central Core Disease : Weakness in the muscles affecting hips and legs resulting in problems in running, jumping and climbing stairs

  • Centronuclear Myopathy or Myotubular Myopathy : Weakness in the muscles affecting face, legs, arms and the trunk resulting in drooping upper eyelids, facial weakness or foot drop

  • Myotonia Congenita : Muscles in the face, arms or legs are affected and result in muscular stiffness (myotonia) after contracting of muscles - usually after a trigger in the form of stress, fatigue, cold or a long period of no motion

  • Nemaline Myopathy : Weakness in the muscles of arms, legs and the trunk resulting in poor or absent reflexes, long or narrow face, abnormal facial features

  • Paramyotonia Congenita : Stiffness of muscles in the face, forearms and hands

  • Periodic Paralysis : Temporary muscle weakness episodes in hypokalemic form (low calcium) as a result of vigorous exercises, intake of food high in carbohydrates, stress, alcohol, insulin, pregnancy or infection. In the hyperkalemic form (high calcium) it can occur as a result of vigorous exercises, stress, pregnancy, skipping food, high potassium levels or steroids

  • Mitochondrial Myopathies : Progressive weakness of muscles in the eye (ocular myopathy) or arms and the legs or multisystem issues


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.



Fibula fracture

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:


  • There is localized swelling and tenderness around the fracture site, along the outside of the lower leg.
  • You may experience pain at the outside of the lower leg, that aggravates while you walk.
  • The common peroneal nerve that crosses the fibular neck is prone to injury due to fibular neck fracture or because of the pressure of a splint or during surgical correction. A foot drop or sensation abnormalities may occur because of this.

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.

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Bibliography / Reference

Collection of Pages - Last revised Date: November 11, 2019