Myopathies are a heterogeneous group of conditions which have diverse aetiologies. They usually affect the nervous system or any disorder related to neuromuscular junction.
The muscular dystrophies are considered most common of such disorders and Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. However, the broad range of myopathies is outlined in the boxes below which include some of the rare primary disorders of muscle as well as acquired myopathies.
The subsequent sections put these conditions in context and highlight some contrasting diagnostic and clinical features. Most of the congenital myopathies are chronic and slowly progressive. Metabolic, inflammatory, toxic and endocrine myopathies present subacutely or even acutely and this requires awareness amongst front-line physicians to recognise and diagnose myopathy.
These diseases are not contagious and are caused by mutations or changes in the genes. Genes are responsible for building our bodies and are passed from parents to their children with along with the defects.
Some of the common symptoms of mitochondrial myopathies include:
Muscle Weakness or exercise intolerance
stroke episodes – Deafness, blindness
There is no specific treatment for any of the mitochondrial sympathies; physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as ribloflavin, coenzyme Q and carnitine may provide subjective improvement in fatigue and energy in some patients.
The prognosis for patients with mitochondrial myopathies varies greatly and may depend largely on the type of disease and the degree of involvement of various organs. These disorders may cause progressive weakness and can lead to death.
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