Nalini A, Gayathri N
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Neurol India. 2008 Jul-Sep;56(3):379-85; discussion 386-7. doi: 10.4103/0028-3886.40964.
Miyoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD2B) are distinct clinical entities because different muscle groups are involved at the onset. We describe the clinical features in 28 patients with dysferlin deficiency confirmed by muscle immunohistochemistry (IHC).
A case series from a tertiary national referral center for neurological disorders.
Patients with classical phenotype of MM and LGMD2B underwent a thorough phenotypic characterization followed by muscle histopathological study including IHC for dysferlin deficiency.
There were 28 patients (20 men and eight women) presenting with manifestations of distal myopathy or LGMD2B and had absence of dysferlin staining on IHC. Patients presented predominantly with distal myopathy of Miyoshi type (MM) or proximal LGMD type and were diagnosed to have dysferlinopathy on IHC. Two patients had the proximodistal form and two had onset as tibial muscular dystrophy. The main clinical features in these patients were onset in late adolescence or early adulthood (mean age of onset for MM was 22.0 +/- 6.7 years and for LGMD2B 19.4 +/- 5.1 years). There was early and predominant involvement of the posterior compartment muscles of the leg or proximal pelvic girdle muscles, dystrophic features with necrotic regeneration pattern without vacuoles on muscle biopsy and markedly elevated serum creatine kinase values with mean of 10033.8 +/- 9283 IU/l (range 402-27460). Consanguinity was reported in 46.4%. The mean duration of illness was 6.4 +/- 4.2 years. Dysferlinopathies formed nearly one-fourth of our patients with LGMD.
In our experience dysferlinopathies was not an uncommon form of LGMD.
宫下肌病（MM）和肢带型肌营养不良症（LGMD2B）是不同的临床实体，因为发病时受累的肌肉群不同。我们描述了28例经肌肉免疫组织化学（IHC）确诊的dysferlin缺乏症患者的临床特征。
来自一家全国三级神经疾病转诊中心的病例系列。
具有MM和LGMD2B经典表型的患者接受了全面的表型特征分析，随后进行了肌肉组织病理学研究，包括针对dysferlin缺乏症的IHC检测。
有28例患者（20例男性和8例女性）表现为远端肌病或LGMD2B的症状，且IHC检测显示dysferlin染色缺失。患者主要表现为宫下型远端肌病（MM）或近端LGMD型，经IHC诊断为dysferlinopathy。2例患者为近端至远端型，2例以胫骨肌营养不良症起病。这些患者的主要临床特征为发病于青春期晚期或成年早期（MM的平均发病年龄为22.0±6.7岁，LGMD2B为19.4±5.1岁）。早期且主要累及小腿后群肌肉或近端骨盆带肌肉，肌肉活检显示有营养不良特征，呈坏死再生模式，无空泡，血清肌酸激酶值显著升高，平均为10033.8±9283 IU/l（范围402 - 27460）。46.4%的患者有近亲结婚史。平均病程为6.4±4.2年。dysferlinopathy在我们的LGMD患者中占近四分之一。
根据我们的经验，dysferlinopathy是LGMD的一种常见形式。
