Muscle dystrophies are usually a group consisting of various muscle diseases, each of which is caused by a particular gene abnormality characterized by muscle wasting, contactures and weakness. Although most of the time abnormal gene is inherited, it can at times occur…
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 ...
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The patient is a twelve-year-old boy with Duchenne Muscular Dystrophy and is confined to a wheelchair. He showed symptoms of Duchenne Muscular Dystrophy (DMD), as a pre-scholar at the age of 3 his legs were first affected making his walking and balancing a problem. He walked six months later than expected and had problems running.
In the 1870s, descriptions of people (particularly boys) who grew weaker over time, lost mobility, and died young became increasingly prominent in the medical field. During that period, these descriptions were documented in medical journals. In the next decade, Guillaume Duchenne, a French neurologist, provided a comprehensive evaluation of 13 boys with the most prevalent and severe form of the disease (Parker & Philip 14).
It is X-linked and affects mainly males. DMD occurs when a particular gene on the X chromosome (DMD gene) undergoes mutation and the protein dystrophin is not formed. The present article discusses the epidemiology, pathophysiology, anesthesia management with relevance to DMD.
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Heart muscles, other involuntary muscles and other organs are affected by some types of MD. “The most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin” (ibid.).
Muscular Dystrophy is primarily characterized by weak skeletal muscles that progressively deteriorate over time, defective muscle proteins, and the eventual demise of cells and tissues constituting the muscles. As muscular Dystrophy is a genetic disorder, patients suffering from it have wrong or missing information in their genes.
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