TAILIEUCHUNG - Loạn dưỡng cơ bắp

Duchenne loạn dưỡng cơ bắp là một căn bệnh liên kết với X của cơ gây ra bởi sự vắng mặt của các protein dystrophin. Con trai bị ảnh hưởng bắt đầu thể hiện dấu hiệu của bệnh sớm trong cuộc sống, không còn đi bộ vào lúc bắt đầu của thập kỷ thứ hai, và thường chết theo độ tuổi 20 năm. | Duchenne Muscular Dystrophy Michael Sussman MD Abstract Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life cease walking at the beginning of the second decade and usually die by age 20 years. Until treatment of the basic genetic defect is available medical surgical and rehabilitative approaches can be used to maintain patient function and comfort. Corticosteroids including prednisone and a related compound deflazacort have recently been shown to markedly delay the loss of muscle strength and function in boys with Duchenne muscular dystrophy. Surgical release of lower extremity contractures may benefit some patients. Approximately 90 of boys with Duchenne muscular dystrophy will develop severe scoliosis which is not amenable to control by nonsurgical means such as bracing or adaptive seating. The most effective treatment for severe scoliosis is prevention by intervening with early spinal fusion utilizing segmental instrumentation as soon as curves are ascertained and before the onset of severe pulmonary or cardiac dysfunction. J Am Acad Orthop Surg 2002 10 138-151 Duchenne muscular dystrophy DMD is an X-linked recessive disease of muscle characterized by a progressive loss of functional muscle mass and replacement with fibrofatty tissue. This degenerative process begins at birth and extends throughout the first two decades by which time patients usually die because of compromise of the respiratory musculature. The term dystrophy indicates progressive deterioration of the muscle in contrast with myopathy which is an abnormality of muscle that may impair function but is nonprogressive. An abnormality in the gene responsible for the production of dystrophin results in a total absence of dystrophin in muscle and other tissues in DMD and in reduced amounts of an abnormal dystrophin in a related but milder condition Becker muscular dystrophy BMD .1 DMD

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