A genetic ailment that diminishes body’s muscles responsible for the body’s movement, Muscular dystrophy prevents the body from producing the necessary proteins required for proper functioning of muscles because of the missing or wrong genetic information that prevails in this disorder. As the body’s muscular strength loses its ability the patients lack the strength to perform daily activities and most basic body functions such as walking or sitting. The symptoms could be experienced even at a later stage such as in adulthood. However in many cases the diagnosis has been done in the initial years of birth.
Symptoms
- Continuous muscular weakening.
- Poor strength in maintaining the normal balance of body.
- Falling eyelids.
- Degeneration of cells and muscular wasting
- Difficulty in walking and falling frequently due to lack of balance
- Deformed calf
- Restricted movements
- Difficulty in breathing and swallowing
- Muscular spasms
Causes
As mentioned, the disorder is due to defective genes or abnormal genes. Muscular dystrophy was earlier also known as Duchenne muscular dystrophy and is of different kinds. However most of the cases occur because of a type of inherited disease known as the X-linked disorder that can be transmitted from mothers to sons while the mother herself could remain unaffected. Mostly the disorder is passed down to the son with another Y chromosome. However a lot of muscular dystrophies can occur with just mutation or new gene abnormality instead of being inherited.
Diagnosis
Apart from the physical examination a range of other symptoms are also looked at such as the person’s overall health, family’s health background, history of medications or allergies and other issues also called medical history. Tests however check the form of MD the person might be suffering from and other factors affecting muscular and neural functioning of the body. Many tests also check blood for different enzymes and their level as well as certain proteins responsible for important changes and functions of the body such as conversion of food into energy.
Small fragment of a muscle tissue is also removed for another kind of test to be examined under the microscope. If the muscle tissue has abnormally large fibers or manifest signs of breakage then it’s a sure confirmation of the disorder. Genetic testing can also tests different forms of muscular dystrophy.
Muscular Dystrophy life expectancy
On average patients cannot make it beyond 18 to 20 years of age. Boys especially do not survive till their teenage. However due to increasing research and treatment options the respiratory and cardiac care has seen some change. Many people have been making it to College and universities. Some have also got married and have children. We can say that life expectancy has increased to 30 years and there are also cases where people live till the age of 40 to 50.
Prognosis in this case like other disorders depends on the type of ailment and medical history as well as the body’s immunity. If the complications in heart and breathing are more, chances are that the conditions will deteriorate further. Muscular diseases sometimes do not really affect life expectancy but in some cases it can affect the person adversely. The emphasis should therefore be on management of respiratory, muscular and cardiovascular issues that play a major role in this ailment and if taken care of, it can positively help the patient with a quality life.
Treatment
Unfortunately this disorder is not curable but a lot of scientific and medical research is taking place to find one. Scientists are also trying to treat the abnormal gene that causes the ailment in order to make the correct proteins. There are also claims about research being done to make certain kind of chemicals that could be substituted with the proteins.
For the teenagers suffering from this disorder there are different exercises in order to enhance their muscular function such as physical therapies specially designed to stay away from contractures or the hardening of muscles close to the joints that makes the movement difficult and painful. Special braces are also available for the teens to maintain the flexibility of their joints and tendons. The braces are like rubber band tissues that help with the attachment of muscles and bones. In cases of severe contractures surgical intervention is also needed in order to decrease the pain and enhance the movement that has been restricted. Surgery is sometimes used to reduce pain and increase movement from contractures.
Due to respiratory problems as a part of the ailment people also require respiratory aids like ventilators. Medicines such as prednisone, mexilitine, and other muscular relaxants are also prescribed to treat the stiffening and restriction of muscular movement especially in the case of Duchenne Muscular Dystrophy and myotonic Muscular Dystrophy. Since this disorder brings a lot of heart problems it is also important to regularly see a heart specialist to avoid further complications.