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Congenital Myopathies - Medical Negligence
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Also known as Congenital Muscle Weakness or Congenital Myopathy
Congenital myopathies were first defined in 1956. This was a case of "central core disease"; several other types of congenital myopathy have been defined since then.
Congenital myopathies have basically the same symptoms, which include hypotonia and poor reflexes that occur early in life. It is more often seen in the proximal part of the body than the extremities. The child may have unusual physical features. The condition is relatively nonprogressive and is often hereditary. A muscle biopsy will show problems with the cells of the body.
Hypotonia or muscle weakness is one of the big findings in the disease. It shows up as a serious head lag in the neonatal period as well as an inability to flex the legs and arms at the hips, elbows and knees. The hips are rotated outward and there is weakness of many of the trunk and facial muscles.
There are four main types of congenital myopathies. These include:
- Myopathies associated with protein accumulation
- Myopathies associated with central nuclei
- Myopathies with cores
- Myopathies with differences in myofiber sizes
The causes of congenital myopathies are genetic. There are changes in genes that code for muscle proteins of the body. This means that muscle biopsies will show obvious changes in how they look. Only about 14 percent of those babies with muscle weakness will have muscle changes associated with congenital myopathies. The most common myopathies are congenital fiber-type myopathy and nemaline rod myopathy.
The outcome of congenital myopathies varies with the severity of the disease and with the type of disease. Some children with the disease die in infancy, while others go on to have a normal lifespan. The most common cause of death is cardiac or pulmonary side effects. There can be significant skeletal abnormalities and a condition known as "malignant hyperthermia" can occur, which is one of a high body temperature.
Generally both sexes are affected, except in genetic X linked forms of the disease, where exclusively males are affected. Most of these conditions are seen in babies but it can show up as late as adulthood in some cases. The main causes of congenital myopathies include an autosomal dominant disease, in which the infant has a fifty: fifty chance of getting the disease from an affected parent. This is true of central core disease. Other diseases are autosomal recessive, requiring both parents to have a mutated gene. The parents have a one in four chance of having a child with the disease. In nemaline myopathy, for example, the condition is autosomal recessive.
The diagnosis of congenital myopathies includes a muscle biopsy of an affected muscle. It will show abnormal muscle cells. Genetic testing can show the specific type of congenital myopathy involved in the disease. Blood tests can show low or high potassium levels in certain types of congenital myopathy.
There is no cure for congenital myopathies. The treatment for these children (or adults) involves giving the patient the best quality of life. It can include hospitalization with intensive physical therapy, respirator care for those whose muscles have lost the ability to expand the lungs. Other lifestyle modifications, including wheelchairs and walkers may be needed in order to keep the individual as mobile as possible. Braces or other orthopedic involvement, including surgery, may be required.
Certain medications can be used to control pain but there are no medications that can cure or really alleviate the basic symptoms of the disease. Gene therapy is being studied in order to replace missing enzymes or proteins that lead to the various congenital myopathies.