Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients
Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients
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DOI：
10.1212/wnl.0b013e318207b043
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发表时间：
2011-01-18
期刊：
影响因子：
9.9
通讯作者：
Serdaroglu-Oflazer, P.
中科院分区：
文献类型：
--
作者：
Durmus, H.;Laval, S. H.;Serdaroglu-Oflazer, P.
背景资料：眼咽远端肌病（OPDM）是一种罕见的成人发病的遗传性肌肉疾病，具有常染色体显性和隐性遗传。OPDM患者表现为进行性眼、咽和肢体远端肌肉受累。引起OPDM的遗传缺陷尚未阐明。方法：在1982年至2009年期间，伊斯坦布尔医学院神经科诊断为OPDM的9个无关土耳其家族的47例患者的临床和遗传学结果进行了评估。观察到常染色体显性和常染色体隐性性状，在临床表型或严重程度上没有任何明显差异。最常见的初始症状是上睑下垂，其次是口咽症状和远端无力，这些症状在第五个疾病年后开始。在最大的常染色体显性遗传家族中，疾病表型和严重程度的家族内变异是显著的。非典型表现，如在长期随访中9例无肢体无力，4例近端为主的无力，3例不对称性上睑下垂。吞咽困难是由于肌病引起的口咽吞咽困难。血清肌酸激酶水平略有增加，肌电图显示肌病模式，偶尔肌强直放电。肌肉病理学发现包括边缘和自噬空泡和慢性肌病变化。重要的是，相当比例的患者在仍然走动时发生呼吸肌无力。所有已知的肌营养不良症的遗传位点的连锁，并为远端和肌原纤维性肌病，被排除在最大的常染色体显性和常染色体隐性OPDM family.Conclusions：我们认为，OPDM是一种临床和遗传上不同的肌病。神经病学（R）2011; 76：227-235
Background: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated.Methods: Clinical and genetic findings of 47 patients from 9 unrelated Turkish families diagnosed with OPDM at the Department of Neurology, Istanbul Faculty of Medicine, between 1982 and 2009 were evaluated.Results: The mean age at onset was around 22 years. Both autosomal dominant and autosomal recessive traits were observed, without any clear difference in clinical phenotype or severity. The most common initial symptom was ptosis, followed by oropharyngeal symptoms and distal weakness, which started after the fifth disease year. Intrafamilial variability of disease phenotype and severity was notable in the largest autosomal dominant family. Atypical presentations, such as absence of limb weakness in long-term follow-up in 9, proximal predominant weakness in 4, and asymmetric ptosis in 3 patients, were observed. Swallowing difficulty was due to oropharyngeal dysphagia with myopathic origin. Serum creatine kinase levels were slightly increased and EMG revealed myopathic pattern with occasional myotonic discharges. Myopathologic findings included rimmed and autophagic vacuoles and chronic myopathic changes. Importantly, a considerable proportion of patients developed respiratory muscle weakness while still ambulant. Linkage to the genetic loci for all known muscular dystrophies, and for distal and myofibrillar myopathies, was excluded in the largest autosomal dominant and autosomal recessive OPDM families.Conclusions: We suggest that OPDM is a clinically and genetically distinct myopathy. Neurology (R) 2011; 76:227-235