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Published on: Jul 31, 2006
Last modification: Jul 31, 2006
Muscular dystrophy
by SirGan|
Although they are very rare- it is important to know that muscular dystrophy is a group of inherited muscle diseases in which muscle fibers are extremely susceptible to damage. So, what is the result of all this: muscles, primarily voluntary muscles, become progressively weaker. Bad thing is that in the late stages of muscular dystrophy, fat and connective tissue often replace muscle fibers and in some types of muscular dystrophy, even heart muscles, other involuntary muscles and other organs are affected. Although experts are still debating about the possible cause- the most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin.
Unfortunately- there's no cure for muscular dystrophy, but medications and therapy can slow the course of the disease. These dystrophies weaken muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things they take for granted, like walking or sitting up.
Mechanism of muscle damageWell, everyone probably knows that muscles and membranes, like any other tissue, need many different kinds of proteins to stay healthy. We're talking about another kind of protein - the kind human body actually creates. It is all genetically controlled because genes are telling the body how to make the proteins your muscles need. But in people with MD, these genes have wrong information or leave out important information, so the body can't make these proteins properly.
Without these proteins, the muscles break down and weaken over time.
Signs and symptoms of muscular dystrophyBecause there are many different types of muscular dystrophies signs and symptoms vary according to the type of muscular dystrophy. But, important thing to know is that there are three cardinal signs:
Different types of muscular dystrophyDuchenne muscular dystrophyEvery patient should know that this form of dystrophy is the most severe form of dystrophinopathy.
Becker's muscular dystrophyBecker's muscular dystrophy is a milder form of dystrophinopathy.
Myotonic dystrophy - SteinertThis type of dystrophy is also known as Steinert's disease. The fact is that this form of muscular dystrophy produces stiffness of muscles and an inability to relax muscles at will. Although this form of dystrophy can affect children, it often doesn't affect people until adulthood.
Besides myotonia, signs and symptoms of adult-onset myotonic dystrophy may include:
Facioscapulohumeral muscular dystrophyAlso known as Landouzy-Dejerine disease, this form involves progressive muscle weakness, usually in this order:
Limb-girdle muscular dystrophyMuscles usually affected first by this form of muscular dystrophy include hips and shoulders. Several researches have concluded that this form then progresses to the arms and legs, though progression is slow.
Congenital muscular dystrophySigns of congenital MD may include:
Experts are saying that this form is apparent at birth and progresses slowly. More serious forms of these congenital MDs may involve severe mental and speech problems as well as seizures.
Oculopharyngeal muscular dystrophyIt is easy to assume from the name that the first sign of this type affect eyelids and throat muscles! They include
Distal muscular dystrophyEvery patient should know that this group involves the muscles farthest away from the center of the body. These muscles include those on the hands, forearms, feet and lower legs. This form of dystrophy generally begins in adulthood between the ages of 40 and 60.
Emery-Dreifuss muscular dystrophy - EDMDThis form of muscular dystrophy usually begins in the muscles of the:
EDMD is another form of muscular dystrophy that affects mostly boys. It involves muscles in the shoulders, upper arms, and shins, and it often causes joint problems (joints can become tighter in people with EDMD). The heart muscle may also be affected.
Screening and diagnosisBecause we are talking about inherited muscle disease, it is logical that a simple but careful review of family's history of muscle disease can help doctor reach a diagnosis.
The fact is that damaged muscles release enzymes such as creatine kinase (CK) into the blood. It is logical then that the high blood levels of this enzyme suggest a muscle disease such as muscular dystrophy.
Not too many people have heard about this diagnostic method! It is done using a thin-needle electrode which is being inserted through skin into the muscle to be tested. These electrodes measure electrical activity while the patient is gently tightening and relaxing the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.
Ultrasonography represents one of the newest diagnostic methods! It is about high-frequency sound waves which are used to produce precise images of tissues and structures within body. Good thing about this method is that it represents a noninvasive way of detecting certain muscle abnormalities, even in the early stages of the disease.
Muscle biopsy is also one very good diagnostic tool! A small piece of muscle is taken for laboratory analysis.
Like it was mentioned before - blood samples are examined for mutations in the gene that produces dystrophin. These tests examine the portions of the dystrophin gene responsible for most cases of Duchenne and Becker's muscular dystrophies. They also identify deletions or duplications on the dystrophin gene in about two-thirds of people with Duchenne and Becker's MDs.
Treatment of muscular dystrophiesUnfortunately - there's currently no cure for any form of muscular dystrophy. Most experts claim that current treatment is designed to help prevent or reduce deformities in the joints and the spine and to allow people with these muscle disorders to remain mobile as long as possible.
Physical therapyBad thing about these disorders is that as muscular dystrophy progresses and muscles weaken, contractures can develop in joints. This can affect the tendons which then can become short, restricting the flexibility and mobility of joints. The most important goal of physical therapy is to provide regular range of motions exercises to keep your joints as flexible as possible. The goal is also in delaying the progression of contractures, and reducing or delaying curvature of spine.
MedicationsDoctors prescribe medications to treat some forms of muscular dystrophy:
Assistive devicesMost of the patients have confirmed that braces can both provide support for weakened muscles of hands and lower legs and help keep muscles and tendons stretched and flexible, slowing the progression of contractures.
Other devices used are:
SurgeryThis is one of the most effective treatment tools! It may be extremely helpful in releasing the contractures that may develop and that can position joints in painful ways. This may be done to relieve tendons of your hip and knee and on the Achilles tendon at the back of your foot.
PrognosisIt could be difficult to talk about prognosis. The life expectancy of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected.
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