Muscular dystrophy is a genetic disorder characterized by the progressive wasting of skeletal muscles. Muscles weaken overtime and sufferers gradually lose the ability to do the things we take for granted, for example - walking. There are several forms of Muscular Dystrophy (MD), all of which can occur throughout childhood or adulthood. In this report however I will focus on two main forms – Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Both forms of this disease affect mainly males. The four categories that I will talk about in this report include – genetic transfer, signs and symptoms, diagnosis and the prevention and treatment for MD.
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GENETIC TRANSFER
Muscular Dystrophy is caused by a mutation on a recessive sex-linked gene found on the X-chromosome. The abnormal gene does not produce a crucial muscle protein called Dystrophin, causing the progressive weakening of muscle. The carriers of this disease are female.
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SIGNS & SYMPTOMS
Symptoms and the severity can vary depending on the form of MD. The form of the disease is decided according to the age at onset of symptoms, inheritance of the disease, the rate of progression, and how bad the muscle weakness is.
Symptoms include:
• Difficulty walking (walking on his or her toes, waddling)
• Difficulty getting up from a sitting or lying position
• Difficulty carrying or pushing objects
• Loss of strength in a muscle group
• Frequent falls
• Mental retardation (present in some forms of the disease)
• Drooling
• Eye-lid drooping
• Late or slow development of muscle motor skills
Some symptoms are more present in certain types of Muscular Dystrophy.
For example, common symptoms for Duchennes MD include:
• Tripping or falling
• Cardiac complications
• Learning disabilities
Duchenne muscular dystrophy often leads to death by the age of 30 in most sufferers of the rapidly progressing disease.
Common symptoms for Becker MD include:
• Weakness in pelvic, shoulder and back bones
• Cardiac complications
Becker Muscular Dystrophy also progresses slower than Duchennes MD and symptoms for BMD may not appear in childhood.
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DIAGNOSIS
To diagnose a person with Muscular Dystrophy a number of tests have to be carried out. A blood test is usually done first, as well as tests that measure how nerves and muscles are working. A muscle biopsy is usually carried out to confirm that the person has muscular dystrophy.
Testing such as Chorionic Villus Sampling and Amniocentesis can detect forms of MD during pregnancy. Duchennes muscular dystrophy can be detected, the test being about 95% accurate.
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TREATMENT AND PREVENTION
There is no cure for Muscular Dystrophy, however medications, exercises and various other methods can improve the quality of a MD sufferer’s life and slow the weakening of muscles.
New treatments for the disease are currently being looked into, one of which focuses on using two techniques, that are already in practice, together; cell transplantation and tissue engineering. The treatments used together seem to create a donor cell engraftment into the affected skeletal muscle. This new treatment is currently only a study. Other techniques to improve and treat a sufferer with MD are practiced.
Sufferers of MD often suffer contractures, which is the stiffening or ‘locking’ of joints in painful positions. Medicines such as phenytoin, porcainamide or quinne are used to treat the slowed relaxation of the muscles. To prevent contractures other treatments are available such as physiotherapy and other low intensity exercises. These activities also help to keep mobility in the patient for as long as possible.
Occupational therapy helps people with Muscular dystrophy cope with their daily activities, such as being able to feed and care for themselves. Corticosteroids can also be used to slow the wasting of muscle tissues for as long as possible. These
