Muscular dystrophy, abbreviated as MD, is a group of genetic disorders characterized by progressive weakening followed by degeneration of the musculoskeletal system. It is a progressive disease that could lead to debilitating conditions if treatment is not initiated on time.
Muscular weakness that steadily progresses is the major symptom of MD. The Duchenne MD is the most common form and the symptoms include:
Symptoms of Becker MD are more or less similar to Duchnne MD. However, in the former type, the disease progresses at a slower rate and the symptoms first appear during adulthood.
Physical examination and information on past medical history form the preliminary diagnostic tests. In addition to these, the following tests are recommended to diagnose muscular dystrophy:
Medications, several therapies and surgical procedures form the basis of treatment. MD cannot be cured; but the symptoms can be managed and the progression can be slowed down with the various treatment regimes .
Medications: Medications such as corticosteroids are given to improve the muscle strength and delay the progression of disease. However, experts advise against the prolong use of such drugs due to its associated side effects.
Therapies: Therapies that include exercises, mobility aids and breathing assistance can help the affected individuals in maintaining mobility and improve muscle flexibility. MD causes the respiratory muscles to weaken which in turn leads to breathing problems. In such cases, the sleep apnea device comes of help and aids in providing oxygen supply throughout the night. In severe form of MD, individuals may be required to put on ventilator.
Surgical procedures: These are indicated in conditions, wherein the individuals have breathing problems or heart defects due to MD. Scoliosis surgery is carried out to correct curvature of spine which can also contribute to breathing problems.
The prognosis of the disease greatly depends on the type of MD. Certain cases of MD can be mild in the beginning and progress at a slow rate . Such cases can be managed well with appropriate medications and the disease progression can be arrested. However, other types of MD may cause functional disability and severe muscle weakness interfering with the individual’s ability to walk. In such situations very little can be done to treat or manage the condition.
Muscular dystrophy is a genetic disease. Several genes make up the proteins that protect the muscle fibers from damage. Absence of any one gene can make the muscle fibers susceptible to damage. There are a few types of genetic defects which are inherited; while others occur spontaneously during the embryo formation stage. The types of muscular dystrophy which are inherited include Duchenne, Becker and Emery-Dreifuss . The several types of muscular dystrophy that occur as a result of autosomal genetic defect include facioscapulojumeral, distal, ocular and oculopahryngeal.
The prevalence of MD varies greatly with its type. Duchenne is known to be the most common form of muscular dystrophy affecting more males than females. It has been estimated that Duchenne occurs in about 1 per 3500 live births in US. Becker is the second most common form of MD after Duchenne and affects about 1 per 30,000 live births in US. Other forms of MD are a rare occurrence .
Multiple proteins are required for appropriately maintaining the complex interactions taking place in the muscle membrane. Several types of genes are required for making the protein of the muscle fibers which protects it from damage. Absence in any one type of gene can lead to the development of muscular dystrophy. Therefore, genetic mutations which can either be inherited or are spontaneous in nature cause MD to set in .
Muscular dystrophy is a genetic disease. Therefore, genetic counseling should be considered in patients who have a family history of the disease. MD can be prevented in about 95% of the cases by genetic testing done during pregnancy.
Muscular dystrophy (MD) is of different types. Of the various forms, Duchenne muscular dystrophy is the most common type that is known to affect boys more compared to girls. Certain forms of MD primarily begin to show effect during childhood days. MD cannot be cured; the symptoms can however be managed and progression of the disease slowed down through medications . The first case of muscular dystrophy was diagnosed in the year 1836 by Conte and Gioja.
Muscular dystrophy (MD) is a group of genetic diseases that cause severe muscle weakness giving rise to a range of debilitating symptoms. With gradual progression of the condition, the walking ability is gravely hampered and individuals have to end up using wheel chair for mobility. In many cases, the children are the most affected with incidence rates recorded more for boys than girls. There are various types of MD; Duchenne being the most common form.
Genetic mutation causes muscular dystrophy. Mutations in the gene can either be heredity in nature or can occur spontaneously during the embryo formation.
Muscular dystrophy is diagnosed by thorough physical examination of the signs and symptoms, following which several other tests are also conducted. Enzyme test to detect levels of creatine kinase is done. In addition, muscle biopsy and electromyography are also performed.
Medications form the primary line of treatment for muscular dystrophy. In addition, several therapies which include walking aids, exercises are also carried out to help individuals improve their muscle strength and mobility. Surgical procedures are required if the individuals suffer from other secondary complications such as respiratory problems or cardiac defects due to MD.