Muscular Dystrophy

This group of muscle diseases affects the body by weakening the entire muscle and skeletal systems, thereby hampering movements and only other body functions. It is said to be caused through various methods that serve to create defects in certain genes responsible for protein formation, as well as the death of cells and tissue. In the 1960’s, an incident involving the death of several young boys, who had grown progressively weaker before finally dying, was possibly the first known incident of this disease and was used extensively by researchers in later medical journals. In the following decade, Guillaume Duchenne, wrote a journal outlining the cases of the thirteen boys that displayed the most severe symptoms of the disease, which now bears his name, Duchenne Muscular Dystrophy.

The Disease

Known to affect mostly males, with a small number of females experiencing severe symptoms, the disease has many forms, Becker, Limb-girdle and Myotonic to name a few. Duchenne and Becker forms are caused by a mutation of an X chromosome gene and like most forms of the disease, it manifests as multi-system disorders in the body particularly in the heart, nervous, brain, eyes, endocrine and gastrointestinal systems. This disease has also been known to affect intellect, speech, sexual and behavioral aspects of a person and these forms are diagnosed through molecular diagnostic methods.

The cause

Said to be hereditary, the different forms of this disease follow lines of inheritance and can be traced through family trees. This is not the only way the disease can be acquired however, it is possible that nutritional defects during pregnancy, as well as random mutations of the dystrophin gene, affect around 33% of people suffering from this condition. Muscle tissue’s inability to create functional dystrophin proteins is the main cause of Duchenne and Becker types of Muscular Dystrophy. Limb-girdle muscular dystrophy or LGBD affects both male and females and is caused when a child receives two defective genes for their parents. There are many forms of LGBD but life expectancy in most case does not extend past 45 and symptoms usually develop early in childhood.

Diagnosis of this disease is done based on the results of a muscle biopsy with a physical examination and investigation into the patients medical history to determine the specific type. Though the illness is usually accompanied by loss of muscle mass, sometimes it can also encourage the formation of excessive fat, which can disguise the loss, making simple observation an unreliable diagnostic tool.

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