Abstract:
The clinical assessment of patients with proximal muscle weakness represents a frequent yet intricate challenge. We present the case of a 60-year-old woman who experienced a progressive, symmetrical weakness in proximal limbs and bulbar muscles over 6 months. Notable clinical findings included bilateral ophthalmoparesis; widespread muscle atrophy; and pronounced weakness in craniobulbar, cervical, and proximal muscles, more severe than in distal ones. We elucidate a methodical diagnostic approach, focusing on constructing a comprehensive differential diagnosis and identifying potential causes of proximal muscle weakness. Special emphasis is placed on exploring the etiologies in cases presenting with both progressive muscle weakness and ophthalmoparesis. We further describe the role of muscle biopsy results and their integration with genetic testing outcomes.
摘要:
近端肌无力患者的临床评估代表了一个频繁而复杂的挑战。我们介绍了一个60岁的女性,她经历了进步,6个月以上近端四肢和延髓肌肉对称无力。值得注意的临床表现包括双侧眼瘫;广泛的肌肉萎缩;和颅骨明显无力,子宫颈,和近端肌肉,比远端更严重。我们阐明了一种有条理的诊断方法,重点构建综合鉴别诊断和确定近端肌无力的潜在原因。特别强调在出现进行性肌无力和眼瘫的病例中探索病因。我们进一步描述了肌肉活检结果的作用及其与基因检测结果的整合。