肌肉疾病《神经病学》双语课件.pptVIP

肌肉疾病 (Myopathies) Dep. of Neurology The 2nd Hospital Harbin Medical University 进行性肌营养不良(progressive muscular dystrophy, PMD) 概念 病因及发病机制 病理 临床表现 诊断及鉴别诊断 治疗 Progressive muscular distrophy (PMD) Definition inherited myogenic disorders. progressive muscle wasting and weakness of variable distribution and severity. Progressive muscular distrophy (PMD) Introduction Duchenne muscular distrophy (DMD) Etiology an X-linked recessive condition that affects predominantly male. caused by the absence or disruption of the protein dystrophin, the gene codes for which located at Xp21. The main function of the dystrophin complex is its structural role in maintaining sarcolemmal integrity during contraction. Duchenne muscular distrophy (DMD)  Pathology 免疫组化染色可见抗肌萎缩蛋白大量缺失，对诊断有决定性意义。 Normal dystrophin Absent of dystrophin Duchenne muscular distrophy (DMD) Clinical manifestations Symptoms is apparent by 4 years old, and patients are typically severely disabled by adolescence, with death occurring in the third decade. Toe walking, waddling gait, and inability to run are early symptoms. Weakness is most pronounced in the proximal upper extremities, but also affects the proximal lower extremities. Duchenne muscular distrophy (DMD) Clinical manifestations Winged scapulae are common. Pseudohypertrophy of the calves caused by fatty infiltration of the muscle is common (90%). In attempt to rise to stand from a supine position, patients characteristically must use their arms to climb up their bodies (Gowers sign). Duchenne muscular distrophy (DMD)  Clinical manifestations The heart is involved late in the course. Mental retardation is a frequent (1/3) accompaniment. EMG: myopathic (abundance of short, low-amplitude, polyphasic MUP) . Serum creatine phosphokinases (CPK) levels are exceptionally high (10 000U/L). Duchenne muscular distrophy (DMD) Treatment No definite treatment is available. some studies suggest that prednisone, 1.5 mg/kg/d orally, may im