Ansari Ubaid, Dua Aakriti, Aneja Esha, Amani Noorhan, Muttalib Zohaer, Lui Forshing, Chima Biljinder S
Family Medicine, California Northstate University College of Medicine, Elk Grove, USA.
Pediatrics, California Northstate University College of Medicine, Elk Grove, USA.
Cureus. 2025 Jul 10;17(7):e87683. doi: 10.7759/cureus.87683. eCollection 2025 Jul.
Miyoshi myopathy is a muscular dystrophy disease characterized by muscle weakness and atrophy generally in distal muscle groups, such as in the legs and arms. Miyoshi myopathy is thought to occur due to genetic mutations in the DYSF gene, which codes for the dysferlin protein, which is critical for muscle cell membrane integrity and muscle fiber adhesiveness. The first symptoms begin in early adulthood and include weakness and atrophy in the calves, gait abnormalities, pain and discomfort in affected muscles, and difficulty jumping or walking on tiptoes. Patients generally are diagnosed by a combination of physical exam findings, genetic testing, muscle biopsy, and elevated creatinine kinase (CK) levels. Management of the disease progression includes physical therapy to strengthen the muscles, nutritional support, occupational therapy, and assisted device education. While not life-threatening, Miyoshi myopathy outlook is generally considered moderate to poor due to significant muscle weakness and eventual loss of mobility usually in 10-20 years after onset. We present a unique case of a 66-year-old male patient complaining of pain in his bilateral calves after having had a series of back surgeries 10 years prior. A diagnosis of Miyoshi myopathy, a rare occurrence in this age group, was made based on CK levels. In this report, we will discuss the pathophysiology, disease progression, and management of Miyoshi myopathy.
三好肌病是一种肌肉萎缩症，其特征通常是远端肌群（如腿部和手臂）出现肌肉无力和萎缩。三好肌病被认为是由于DYSF基因突变引起的，该基因编码肌膜蛋白，而肌膜蛋白对肌细胞膜完整性和肌纤维黏附至关重要。最初症状始于成年早期，包括小腿无力和萎缩、步态异常、受累肌肉疼痛和不适，以及跳跃或踮脚尖行走困难。患者通常通过体格检查结果、基因检测、肌肉活检和肌酸激酶（CK）水平升高来综合诊断。疾病进展的管理包括物理治疗以增强肌肉、营养支持、职业治疗和辅助设备教育。虽然不会危及生命，但由于明显的肌肉无力以及通常在发病后10至20年内最终丧失活动能力，三好肌病的预后通常被认为是中度至较差。我们报告一例独特病例，一名66岁男性患者在10年前接受一系列背部手术后，双侧小腿疼痛。根据CK水平诊断为三好肌病，这在该年龄组中较为罕见。在本报告中，我们将讨论三好肌病的病理生理学、疾病进展和管理。
