Schofer Markus Dietmar, Patzer Thilo, Quante Markus
Department of Orthopaedics, University Hospital Marburg, Marburg, Germany.
Cases J. 2008 Dec 16;1(1):402. doi: 10.1186/1757-1626-1-402.
Myopathies can be sub-classified into congenital, hereditary, mitochondrial, and secondary myopathies.Congenital myopathies are usually diagnosed post partal or in early childhood. Manifestation in adolescence is uncommon and most cases occur as sporadic mutations. Therefore, there is a risk of under diagnosing this disease in middle-aged patients showing pain, dysfunction, recurrent trauma or falls, where muscle atrophy is seen as a secondary injury.
Our report is about a 54 year old Caucasian woman with an extended history of pain, loss of function and weakness in her right shoulder. The clinical picture showed a frozen right shoulder. The main finding was a marked limb-muscle atrophy of both delta- und biceps-muscles and a rotator cuff tear that had developed over years. Previous medical consultations attributed the atrophy to recurrent falls, shoulder dysfunction and pain. Conservative treatment (analgesics, physiotherapy, training) had failed.The familiar anamnesis was free of any neurological diseases or other genetic diseases.MRI showed a sub-total proximal muscular limb atrophy and a rotator cuff tear in both shoulders. An incision-biopsy of the right delta- and biceps-muscle revealed a chronical myopathy. The level of creatinkinasis was expected to be high but measurements showed values only slightly above normal. Immunohistochemistry, eventually revealed a mild form of LGMD (type 2I). Due to the pattern of symptoms and diagnostic results we described the case as atypical LGMD.
Our case presents a phenotype of a late onset of limb girdle muscular dystrophy syndrome associated with shoulder pain and dysfunction and recurrent falls. This kind of disease is not very common. In particular, muscle atrophy in the elderly is generally seen as a secondary injury. This case should remind us of the importance of a differential diagnosis of a late onset of muscular dystrophy-syndrome in the elderly, since an early diagnosis offers more treatment options, therefore preventing a rapid progression.
肌病可细分为先天性、遗传性、线粒体性和继发性肌病。先天性肌病通常在产后或儿童早期被诊断出来。在青少年期出现症状并不常见，大多数病例是由散发突变引起的。因此，对于出现疼痛、功能障碍、反复受伤或跌倒且伴有肌肉萎缩（被视为继发性损伤）的中年患者，存在漏诊此病的风险。
我们报告的是一位54岁的白种女性，她右肩长期疼痛、功能丧失且无力。临床表现为右肩冻结。主要发现是三角肌和肱二头肌明显的肢体肌肉萎缩以及多年来形成的肩袖撕裂。之前的医疗会诊将萎缩归因于反复跌倒、肩部功能障碍和疼痛。保守治疗（镇痛药、物理治疗、训练）均无效。家族史中无任何神经疾病或其他遗传疾病。MRI显示双肩近端肌肉肢体部分萎缩和肩袖撕裂。对右三角肌和肱二头肌进行切开活检显示为慢性肌病。肌酸激酶水平预计会升高，但测量结果仅略高于正常。免疫组织化学最终显示为轻度的2I型肢带型肌营养不良（LGMD）。根据症状模式和诊断结果，我们将该病例描述为非典型LGMD。
我们的病例呈现出一种与肩部疼痛、功能障碍和反复跌倒相关的迟发性肢带型肌营养不良综合征的表型。这种疾病并不常见。特别是老年人的肌肉萎缩通常被视为继发性损伤。该病例应提醒我们对老年人迟发性肌营养不良综合征进行鉴别诊断的重要性，因为早期诊断可提供更多治疗选择，从而防止病情快速进展。
