lar dystrophy is a form of muscular dystrophy recessive which is X-linked and affects mostly boys causing degeneration of the muscle and eventually death. It is caused by mutation of a gene known as dystrophin, the most prominent and large gene found in the human chromosome and is responsible for coding a protein called dystrophin, a crucial structural component inside the muscle tissue, charged with provision of structural stability of dystroglycan complex (DGC) a component of cell membrane. Although both males and females are capable of carrying the mutation, males are the most affected and rarely do the females exhibit any signs of the abnormality.
Duchenne muscular dystrophy at first causes progressive proximal weakness of the muscles of the pelvis and legs, which is usually associated with mass muscle loss. Finally this weakness usually spreads to such parts as neck, shoulders, hips, thighs, pelvic area and later on the voluntary muscles around a person’s legs, trunk and the arms. There is an enlargement of the calves and by the time early teenage sets in the respiratory and heart muscles are also affected.
Duchenne muscular dystrophy mostly affects boys at a rate of 1 out of every 3600 resulting in degeneration of muscle and eventually death. The most severe and common type of Muscular dystrophy (MD) occurs amongst children and accounts for over fifty percent of all known cases. Unlike girls, the affected boys usually lack second X-chromosome to cater for the abnormal X-chromosome, which usually contains the abnormal genes.DMD typically appears in boys aged between 3 and 5 years and weakness is usually noticed as the children begin to run or walk. Duchenne muscular dystrophy causes calf muscles to enlarge, and this is one of the most significant characteristic of the disease.
The most common symptoms of this disease start with the weakness of the pelvis and upper legs. Children with this disease usually fall down a lot, have problems rising from a ...Show more