Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a recessive X linked gene mutation. It is located on the "p" arm of the X chromosome (more specifically the Xp21 chromosome). DMD is also fatal. In other words, people affected by DMD will die as a result. Since DMD is on the X chromosome, it mainly affects men. It is very rare for women to inherit this gene, as her father has a DMD and her mother must have this gene. In theory, if a mother owns a gene and her father has a DMD, the possibility of her holding a DMD is 25% if they have a daughter.

There are various kinds of muscular dystrophy. For example, Duchenne muscular dystrophy, Becker malnutrition, Emery-Dreyfus muscular dystrophy, myotonic dystrophy, limb grid type malnutrition, facial cranial brachial muscular dystrophy, congenital malnutrition, ocular malnutrition and distal muscular dystrophy. Duchenne's malnutrition occurs in 2 out of 10,000 young men. It is the most serious disease of all muscular dystrophies. It mainly occurs in young boys affecting children today. Symptoms and signs of muscular dystrophy include sudden falls, muscles of the calf thighs, difficulty going out when lying or sitting, difficulties in running and jumping, weakness in the muscles of the feet, Mental retardation "etc.

Becker type muscular dystrophy is similar to Duchenne muscular dystrophy, but it is not so serious. This type of muscular dystrophy is also more common in boys. Muscle weakness occurs mainly in the arms and legs, and symptoms occur between 11 and 25 years old. Other symptoms of Becker type muscular dystrophy are as follows. Symptoms range from mild to severe, but most suffer from congenital muscular dystrophy. People can not stand up to sit or save lives. The life expectancy of this type also depends on the symptoms. Some patients with congenital muscular dystrophy die in infancy, others continue to live until adulthood

Progression of Becker type muscular dystrophy is very variable and far exceeds Duchenne muscular dystrophy. Yet another form can be regarded as an intermediate between Duchenne and Becker MD (mild DMD or severe BMD). The severity of the disease can be indicated by the age of the patient at the onset of the disease. In one study it is suggested that Becker muscular dystrophy has two different modes of progression. It occurs around 7 to 8 years of age, indicating that heart involvement and stairs are more frequent after age 20. If the onset is around 12 years old, the heart will not be affected so much.

Duchenne Muscular Dystrophy (DMD): DMD is the most common form of muscular dystrophy. This is because the dystrophin gene mutation is on the X chromosome, mainly because it affects boys. This is the most common form of muscular dystrophy and is one of the most common genetic diseases of humans, and it occurs in boys of approximately 1: 5000. The boy lost his ability to walk between teens and died in the early days of adulthood. Dystrophin is the largest gene in the human genome (the 11 kb coding region) and is therefore too large to be packaged in an AAV vector. Micro-muscular dystrophy proteins, including the most important regions of the gene but excluding redundant aspects, have been developed for AAV gene therapy. Approximately 40% of the micro-muscular dystrophy protein representing the coding sequence of the human dystrophin gene was delivered to the biceps brachii of six boys by intramuscular injection using rAAV 2.5. Micro-muscular dystrophy was detected in 2 out of 4 cases at 42 days but not in 2 cases 90 days after injection