DEFINITION
Duchenne and Becker muscle dystrophy is a disease that causes weakness in the muscles close to the trunk.
CAUSE
Abnormalities of the gene that causes Duchenne muscular dystrophy different gene abnormalities that cause Becker muscular dystrophy, but both occur in this sama.Gen gene is recessive and carried by the X chromosome
A woman can carry the gene but does not suffer from the disease because the normal X chromosome can compensate for abnormal gene from the other X chromosome. Each man received a defective X chromosome will suffer from this disease.
Boys who suffer from Duchenne muscular dystrophy muscle protein deficiency an important, namely dystrophin, which is thought to play a role in maintaining the structure of muscle cells. 20-30 among 100,000 infants born male, suffering from Duchenne muscular dystrophy.
The boy who suffered from muscular dystrophy Becker produce dystrophin but its size is too large and does not function as it should. This disease occurs in 3 of every 100,000 boys.
SYMPTOMS
Duchenne muscle dystrophy
Usually first occurs in boys aged 3-7 years, in the form of weakness in or around the hips. Usually followed by muscle weakness in the shoulder and getting worse.
In addition to experiencing weakness, muscle is also enlarged, but not strong muscle tissue.
In about 90% of patients also is enlarged and the weakness of the heart muscle, causing heart rate abnormalities that can be seen on an EKG.
The patient walks like a duck, frequent falls, difficulty in climbing stairs and difficulty when rising from a seated position. The muscles of the arms and legs usually contract around the joint, so that the elbows and knees could not be straightened completely.
In the end can happen curved spinal disorders (scoliosis).
At the age of 10-12 years, most people have to sit in a wheelchair.
Worsening weakness also causes patients susceptible to pneumonia and other diseases, and many died at the age of 20 years.
Muscle dystrophy Becker
Symptoms resembling Duchenne muscular dystrophy, but lighter. Symptoms first appeared at the age of 10 years. When reaching 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.
OTHER muscular dystrophy
Muscles Landouzy-Dejerine dystrophy inherited through an autosomal dominant gene, and therefore only one 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.
Its always affected are the face and shoulder muscles, so patients have difficulty in lifting his arm, whistling or closing his eyes tightly. Some sufferers also experience weakness in the lower limbs, making it difficult to bend the foot toward the ankle (footdrop, legs drooping). Weakness that occurs is usually not too heavy and the patient has a normal life expectancy.
Limb-girdle muscle dystrophy causes weakness in the hip muscles (muscular dystrophy Leyden-M? Anesthetic) or shoulder muscles (muscular dystrophy Erb). This hereditary disease usually appear in adulthood and rarely causes severe weakness.
Mitochondrial myopathy is an inherited muscle diseases occur when the faulty gene in the mitochondria (the energy source for cells) derived through the cytoplasm of the mother's egg cell.
Mitochondria carry their own genes. In the process of fertilization of sperm mitochondria do not give, then all mitochondrial genes come from the mother. Because of this disease is never derived from the father.
This disease often causes muscle weakness in a group, for example the eye muscles (oftalmoplegia).
Diagnosis
Diagnosis is based on symptoms and physical examination. Blood tests showed an increase in creatinine kinase enzyme that out dar muscle cells. However, elevated levels of these enzymes do not always indicate the presence of muscular dystrophy because it can also be caused by other muscle diseases.
Muscle biopsy is performed to ensure the diagnosis. Microscopic examination showed yangmati tissue and muscle fibers are abnormally wide. In later stages, the dead muscle tissue is replaced by fat and other tissues.
To confirm the diagnosis of Duchenne muscular dystrophy performed electromyography and nerve delivery assessment.
TREATMENT
Duchenne and Becker muscular dystrophy can be cured. Physical therapy and exercise will help prevent wrinkling muscles around the joints settle. Sometimes surgery is necessary to relieve muscle pain.
Treatment is still in the early stages of research are:
- Prednisone (corticosteroids) that can temporarily relieve muscle weakness
- Genetic therapy that allows the muscle to produce dystrophin.
PREVENTION
Someone who suffers from Duchenne or Becker muscular dystrophy are encouraged to perform genetic counseling for possible chain pass the disease to their children.
Duchenne and Becker muscle dystrophy is a disease that causes weakness in the muscles close to the trunk.
CAUSE
Abnormalities of the gene that causes Duchenne muscular dystrophy different gene abnormalities that cause Becker muscular dystrophy, but both occur in this sama.Gen gene is recessive and carried by the X chromosome
A woman can carry the gene but does not suffer from the disease because the normal X chromosome can compensate for abnormal gene from the other X chromosome. Each man received a defective X chromosome will suffer from this disease.
Boys who suffer from Duchenne muscular dystrophy muscle protein deficiency an important, namely dystrophin, which is thought to play a role in maintaining the structure of muscle cells. 20-30 among 100,000 infants born male, suffering from Duchenne muscular dystrophy.
The boy who suffered from muscular dystrophy Becker produce dystrophin but its size is too large and does not function as it should. This disease occurs in 3 of every 100,000 boys.
SYMPTOMS
Duchenne muscle dystrophy
Usually first occurs in boys aged 3-7 years, in the form of weakness in or around the hips. Usually followed by muscle weakness in the shoulder and getting worse.
In addition to experiencing weakness, muscle is also enlarged, but not strong muscle tissue.
In about 90% of patients also is enlarged and the weakness of the heart muscle, causing heart rate abnormalities that can be seen on an EKG.
The patient walks like a duck, frequent falls, difficulty in climbing stairs and difficulty when rising from a seated position. The muscles of the arms and legs usually contract around the joint, so that the elbows and knees could not be straightened completely.
In the end can happen curved spinal disorders (scoliosis).
At the age of 10-12 years, most people have to sit in a wheelchair.
Worsening weakness also causes patients susceptible to pneumonia and other diseases, and many died at the age of 20 years.
Muscle dystrophy Becker
Symptoms resembling Duchenne muscular dystrophy, but lighter. Symptoms first appeared at the age of 10 years. When reaching 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.
OTHER muscular dystrophy
Muscles Landouzy-Dejerine dystrophy inherited through an autosomal dominant gene, and therefore only one 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.
Its always affected are the face and shoulder muscles, so patients have difficulty in lifting his arm, whistling or closing his eyes tightly. Some sufferers also experience weakness in the lower limbs, making it difficult to bend the foot toward the ankle (footdrop, legs drooping). Weakness that occurs is usually not too heavy and the patient has a normal life expectancy.
Limb-girdle muscle dystrophy causes weakness in the hip muscles (muscular dystrophy Leyden-M? Anesthetic) or shoulder muscles (muscular dystrophy Erb). This hereditary disease usually appear in adulthood and rarely causes severe weakness.
Mitochondrial myopathy is an inherited muscle diseases occur when the faulty gene in the mitochondria (the energy source for cells) derived through the cytoplasm of the mother's egg cell.
Mitochondria carry their own genes. In the process of fertilization of sperm mitochondria do not give, then all mitochondrial genes come from the mother. Because of this disease is never derived from the father.
This disease often causes muscle weakness in a group, for example the eye muscles (oftalmoplegia).
Diagnosis
Diagnosis is based on symptoms and physical examination. Blood tests showed an increase in creatinine kinase enzyme that out dar muscle cells. However, elevated levels of these enzymes do not always indicate the presence of muscular dystrophy because it can also be caused by other muscle diseases.
Muscle biopsy is performed to ensure the diagnosis. Microscopic examination showed yangmati tissue and muscle fibers are abnormally wide. In later stages, the dead muscle tissue is replaced by fat and other tissues.
To confirm the diagnosis of Duchenne muscular dystrophy performed electromyography and nerve delivery assessment.
TREATMENT
Duchenne and Becker muscular dystrophy can be cured. Physical therapy and exercise will help prevent wrinkling muscles around the joints settle. Sometimes surgery is necessary to relieve muscle pain.
Treatment is still in the early stages of research are:
- Prednisone (corticosteroids) that can temporarily relieve muscle weakness
- Genetic therapy that allows the muscle to produce dystrophin.
PREVENTION
Someone who suffers from Duchenne or Becker muscular dystrophy are encouraged to perform genetic counseling for possible chain pass the disease to their children.
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