Duchenne muscular dystrophy, a severe genetic disorder.
Duchenne muscular dystrophy, named after the french neurologist Guillaume Benjamin Amand Duchenne is a recessive disorder cause by rapid progression of muscle degeneration is a rapid worsening form of the muscle dystrophy. This disorder, which affects the dystrophin gene, causes a person's muscle to weaken due to the lack of protein. It makes the patient find trouble walking, speaking and waving. It affects one in 4000 males. Only males are affected by this disease. Symptoms of this disease are usually seen by the loss of muscle of the legs and hip. After a few years, it will happened to the hands, arms and neck of the person. By the age of 12, the patient isn't able to walk properly so wheel chairs are needed to help them. The average life expectancy of victims of the duchenne muscular dystrophy is about twenty years old. There have been cases of patients surviving to the age of 40. One famous patient of this disease is Alfredo Ferrari, the son of the great Ferrari team founder, Enzo Ferrari. Alfredo Ferrari died at the age of 24.
Different treatments and clinics
Even though there are no real cure for the Duchenne muscular dystrophy, there are treatment aim to maximize the quality of life, such as increasing energy and strength for the muscles. Also, there are treatment and therapies for making the muscles more flexible and functional. Examples of medicines are Corticosteroids, prednisolone, deflazacort and beta2-agonists. Other than that, there are clinics dedicated to sufferers of this disorder. A few examples are United Parent Project Muscular Dystrophy, Jett foundation for Duchenne Muscular Dystrophy, The Foundation to Eradicate Duchenne and Action Duchenne.
Diagnosis and tests for the disorder
There are a number of tests to indicate whether a person is a patient of the disorder. One of them is a DNA test. It detects whether a person has inherited the mutated gene. In most cases, this test is very accurate. Another one is a muscle biopsy test. Doctors extract a muscle from a person and examins it. If the muscle lacks quite a lot of protein, the person is probably a patient of the Duchenne Muscular Dystrophy disorder. However, since there are other disorders that leads to the lack of protein in the muscles, this test is not as accurate and therefore not widely used.
