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本文报道了一例单卵双生子兄弟(17岁),两人都患强直性肌营养不良症(简称MD)的报告。在此家系中,共有6例MD,双亲非近亲结婚。本病例的症状为兄弟两人面容都呈现肌萎缩状态,言语略有不清,面肌和颈肌萎缩,四肢肌无力,上肢肌强直,可见远端肌萎缩,其兄较为明显。兄弟二人均有把握性和叩击性肌强直。肌张力正常。无运动失调。上肢肌深部腱反射轻度障碍,下肢腱反射正常,无病理反射、感觉障碍。膀胱和直肠无障碍。二人均有心律不齐,腭弓高,慢性副鼻窦炎,睾丸均无萎缩。
This article reports a case of monozygotic twins (17 years old), both suffering from myotonic dystrophy (MD) report. In this family, a total of 6 cases of MD, non-relatives married parents. Symptoms of the case for the two brothers both showed muscle atrophy, speech is slightly unclear, facial and neck atrophy, limb weakness, upper limb muscle rigidity, showing distal muscle atrophy, the more obvious the brother. Two brothers are confident and tapping muscle rigidity. Muscle tension normal. No movement disorders. Upper limb muscle tendon reflex mild hindlimb tendon reflexes normal, no pathological reflex, sensory disturbances. Bladder and rectum accessible. Both had arrhythmia, palatal arch, chronic sinusitis, no testicular atrophy.