{"id":4283,"date":"2021-08-17T12:31:57","date_gmt":"2021-08-17T09:31:57","guid":{"rendered":"https:\/\/f-genetics.com\/?post_type=test&p=4283"},"modified":"2021-12-01T09:47:46","modified_gmt":"2021-12-01T06:47:46","slug":"dmd-2","status":"publish","type":"test","link":"https:\/\/f-genetics.com\/en\/dmd-2\/","title":{"rendered":"Progressive Duchenne\/Becker muscular dystrophy"},"content":{"rendered":"

Disease characteristics<\/h2>
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Overview<\/div>
Differential diagnosis<\/div>
Pathogenesis<\/div>
Mutation types<\/div><\/div><\/div>
\u2190<\/div>
\u2192<\/div>
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Clinical characteristics<\/strong><\/p>\n\n\n\n

Dystrophinopathies are a group of X-linked neuromuscular diseases, both mild and severe, whose development is caused by mutations in the DMD gene<\/em>encoding the distorphin protein.<\/p>\n\n\n\n

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The severity of the disease is determined by the type of mutation<\/strong> and the functional domain<\/strong>in which it is localized.<\/p>\n\n\n\n

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Mild course<\/strong><\/p>\n<\/div>\n\n\n\n

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Characterized by asymptomatic elevation of serum creatine phosphokinase and muscle convulsions with myoglobinuria.<\/p>\n<\/div>\n<\/div>\n\n\n\n

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Severe course<\/strong><\/p>\n<\/div>\n\n\n\n

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Manifested by the development of classic syndromes that include progressive Duchenne muscular dystrophy (PDMD), progressive Becker muscular dystrophy (PBMD) and DMD gene<\/em>-associated dilated cardiomyopathy.<\/p>\n<\/div>\n<\/div>\n\n\n\n

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The disease is characterized by progressive weakness of the proximal muscles caused by degeneration of the muscle fibers. Degeneration occurs as a result of impaired stability and elasticity of muscle fibers during contraction. As the disease progresses, the muscle fiber is almost completely destroyed and replaced by connective tissue, resulting in muscle pseudohypertrophy \u2014 an increase in muscle volume with a loss or significant weakening of functionality. DMD is included in the list of the most common X-linked diseases [1].<\/p>\n\n\n\n

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Progressive muscular dystrophy usually begins with increased fatigue and weakness in the muscles of the lower extremities.<\/p>\n<\/div>\n\n\n\n

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Differential diagnosis<\/strong><\/p>\n\n\n\n