Muscular Dystrophy

Muscular Dystrophy

Introduction

Muscular dystrophy is common among the population, actually affects 1 in 5000 males and is due to deficiency of a protein known as dystrophin, crucial for proper function and synchronization of existing muscle fibers. Its symptoms usually begin with the presentation of rapidly progressive muscle weakness of proximal predominance, especially in the muscles of the pelvic girdle tangible increase of twins and gait disturbance, which usually occurs before age 5 (Tompkins, 2010).

The clinical features usually favor the diagnosis may be confirmed with electromyography tests and elevated serum levels triggered by specific muscle damage, making appropriate differential diagnosis.

Pathologic Process

The pathological nature of this myopathy results in progressive degeneration of muscle tissue. During the first year of life, babies do not have obvious symptoms, except for slight growth retardation. During their childhood, patients rarely exhibit symptoms, although some clinical signs show that the degenerative process is already underway (high levels of creatine kinase (CK) levels and necrosis of muscle fibers (Tompkins, 2010). Early signs result in a shorter stature, difficulty running or climbing stairs, frequent falls and an enlargement of the calf muscles. Degeneration affects the proximal muscles more than distal muscles and the muscles of the lower limbs and back, more than the muscles of the upper limbs.

In a study on a large number of patients, 94% of them could climb stairs with a slight difficulty at the age of 8 years old. By cons, at the age of 10 years, only 14% were still able to perform the same exercise with the same problem (Brooke et al. 1981). It was during this period that children lose their ability independently ambulatory. The muscles of the limbs and torso are losing mass. Their activities are limited then the use of forearms and fingers. Death patients, caused by the weakening of the respiratory muscles occurs with retention of carbon monoxide anoxemia (decrease the amount of oxygen in the blood) accompanied by a respiratory infection. A death from heart failure occurs in 10-40% of cases. It has been found that the age of death between 10 and 29 years with a mean of 18.3 ± 3.6 years.

Muscular Dystrophies

Muscular dystrophies are genetically determined diseases, primarily affecting skeletal muscle, clinically characterized by progressive muscle weakness and muscle degeneration histological by varying degrees (Tompkins, 2010). The dystrophinopathies are disorders caused by an abnormality in the gene encoding the muscle protein dystrophin. Son of X-linked ...