What Is A Duchenne Muscular Dystrophy?

April 25 22:16 2019 Print This Article

It is defined as a disorder in which there is an x linked problem which affects the muscles. The muscles break down and lead to death ultimately. It is one of the most common muscular problems. Most commonly the males are affected and in few cases females are affected and act as a carrier. It occurs due to the mutation seen in case of gene. It is present on the X chromosome. There is a gene which decodes for the dystrophin protein. It is an important structural component seen in the case of muscle tissue. There is a dystrophin which gives stability to the structure as a dystroglycan complex which is known as the DGC. It is present on the cell membrane. The symptoms are seen in the age below 5 years and mostly involve the males.

The muscles of pelvis as well as legs are involved. There is a loss of muscle too. In few cases there is an increase in the size of calf as well as deltoid muscle. The endurance is low and the person cannot withstand the problem in standing. There is a wasting of the muscle in later stages and in few cases there is a problem in the bone as well as spine in later stages. The muscles are replaced by the fat and there is a fibrosis. There is a need of braces at the age of 10 and one needs a help in walking. Most of the patients depend on the wheel chair when they reach the age 12. In severe cases there is a problem in the development of bone which leads to skeletal troubles. It can also lead to paralysis. One can see intellectual impairment also. The condition worsens as the child grows. The person survival age is late teen to mid 30s as the condition may be and the maximum he can survive at the age of 40.

What are the signs and symptoms of Duchenne muscular dystrophy?

It includes the age below 5 years and mostly involves the males. The muscles of pelvis as well as legs are involved. There is a loss of muscle too. In few cases there is an increase in the size of calf as well as deltoid muscle. The endurance is low and the person cannot withstand the problem in standing. There is a wasting of the muscle in later stages and in few cases there is a problem in the bone as well as spine in later stages. The muscles are replaced by the fat and there is a fibrosis. There is a need of braces at the age of 10 and one needs a help in walking. Most of the patients depend on the wheel chair when they reach the age 12. In severe cases there is a problem in the development of bone which leads to skeletal troubles. It can also lead to paralysis. One can see intellectual impairment also. There is a problem in the motor skill and one notices frequent falls. The person notices a problem in the walking, running as well as stepping. The person has problem in the behavior as well as learning.

How Duchenne muscular dystrophy can be diagnosed?

It includes the use of visual examination and a patient history. One can go for the DNA test as well as muscle biopsy. The most reliable method is DNA test. It helps to identify the mutation. The muscle biopsy is done if there is a genetic test. In this a small part of muscle tissue is removed and a dye is used. There is no protein present. Most of the time mutations are detected by the DNA tests and there is no need of muscle biopsy. There are other pre natal tests which can be done. It is done in case if both the parents are carrier. The chances of infection are quite high in the case of unborn child. It is done in case of pregnancy. It is done in the case of neuro muscular disorders. When the pregnancy is for 11 weeks than one can go for the different types of pre natal tests. One can also go for the chorion villus sampling and is done after more than 10 weeks. Amniocentesis is done after 15 weeks which is followed by the fetal blood sampling. One must consult a genetic counselor before going for the test. If it is done early it leads to termination. The chances of miscarriage are quite high as compared to the later testing.

How Duchenne muscular dystrophy can be treated?

The treatment mainly controls the symptoms and improves the quality of life. One can use the corticoids which increase the strength as well as energy. The severity of symptom is not constant. There are beta 2 agonists which increase the strength of muscle. They do not affect the progress of disease. One must also maintain a physical therapy so that the strength as well as function of muscle is maintained. One must have a proper respiratory support too. One can use the orthopedic appliances which help to improve the mobility and help in self care. One can also go for leg braces so that the ankle does not allow starting of contractions. One must go for mild physical activities such as swimming. The muscle disease can be worsened by the bed rest. The follow up time must be 12 months.