Muscle dystrophy Duchenne & Becker is a disease that causes weakness in muscles near the trunk.
CAUSE
Abnormalities of the gene that causes Duchenne muscular dystrophy gene different from the abnormalities that cause Becker muscular dystrophy, but both occur in the same gene.
This gene is recessive and carried by the X chromosome
A woman can carry this gene but do not suffer from the disease because the normal X chromosome can compensate for the abnormalities of genes from the other X chromosome.
Every man who receives the defective X chromosome will suffer from this disease.
Boy who suffered from Duchenne muscular dystrophy muscle protein deficiency is important, namely dystrophyn, who allegedly played a role in maintaining the structure of muscle cells.
100,000 among 20-30 male babies born, suffering from Duchenne muscular dystrophy.
Boy who suffered from muscular dystrophy Becker generate dystrophyn but size is too big and not working properly.
This disease occurred in 3 of every 100,000 male children.
Duchenne muscle dystrophy
Usually first occurred in boys aged 3-7 years, a weakness in or around the hips.
Usually followed by weakness in the shoulder muscles and getting worse.
In addition to experiencing weakness, muscle is also enlarged, but not strong muscle tissue.
In approximately 90% of patients also occur enlargement and weakness of the heart muscle, causing abnormal heartbeat that can be seen on an EKG.
Patients walk like a duck, frequent falls, difficulty in climbing stairs and had difficulty when rising from a seated position.
The muscles of the arms and legs are usually contract around the joints, elbows and knees that can not be corrected completely.
May eventually develop abnormalities curved spine (scoliosis).
At the age of 10-12 years, most people have to sit in a wheelchair.
Deteriorating weakness also causes patients susceptible to pneumonia and other diseases, and many died at the age of 20 years.
Symptoms resembling Duchenne muscular dystrophy, but more mild.
The symptoms first appeared at the age of 10 years.
When he reached the age of 16 years, very few people who have to sit in a wheelchair and more than 90% who survive to age 20 years.
Muscular dystrophy OTHER
Landouzy muscle dystrophy, Dejerine transmitted through an autosomal dominant gene, and therefore only 1 abnormal gene that can cause disease and can occur in both men and women.
This disease usually starts at the age of 7-20 years.
Always affected are the face and shoulder muscles, so that patients have difficulty in lifting arms, whistling or closed her eyes tightly shut.
Some patients also experienced weakness in lower limbs, making it difficult to bend the foot at the ankle (footdrop, leg limp).
Weakness that occurs is usually not too severe and the patient has a normal life expectancy.
Muscle dystrophy Limb-Girdle cause pelvic muscle weakness (muscular dystrophy Leyden-Möbius) or shoulder muscles (muscular dystrophy Erb).
This hereditary disease is usually only appear in adulthood and rarely cause a great weakness.
Mitochondrial myopathy is a muscle disease that occurs when the derivative of one gene in the mitochondria (the energy source for cells) derived through the egg cytoplasm in the mother.
Mitochondria carry their own genes. In the fertilization process does not provide the sperm mitochondria, all mitochondrial genes come from the mother. Because this disease is not derived from the father.
This disease sometimes causes weakness in the muscle group, for example in the eye muscles (oftalmoplegia).
Diagnosis based on symptoms and physical examination results.
Blood tests showed an increase in creatinine kinase enzymes that out from muscle cells.
But elevated levels of these enzymes does not necessarily indicate the existence of muscular dystrophy that can also be caused by other muscle diseases.
Muscle biopsy done to assure the diagnosis.
Microscopic examination showed die tissue and muscle fibers are abnormally wide.
At an advanced stage, the dead muscle tissue replaced by fat and other tissue.
To strengthen the diagnosis of Duchenne muscular dystrophy is electromyographic and nerve conducts the
assessment.
Treatment
Duchenne muscular dystrophy and Becker can be cured.
Physical therapy and exercise will help prevent muscle furrow settle around the joints.
Sometimes surgery is needed to relieve sore muscles.
Treatment is still in its early stages of research are:
- Prednisone (a corticosteroid) which can temporarily alleviate the muscle weakness
- Genetic therapy that allows the muscle can produce dystrophyn.
PREVENTION
A person suffering from Duchenne muscular dystrophy or Becker recommended for genetic counseling to determine the possibility of a chain passing the disease to her child.
No comments:
Post a Comment