Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J
Hospital San Pedro, Logrono, Espana.
Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Espana.
Rev Neurol. 2018 Apr 16;66(8):268-270.
The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation.
A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness. He is the brother of a 59-year-old woman with the same clinical features. Muscular biopsy played a decisive role in the diagnosis and was characteristic of mitochondrial myopathy. The genetic analysis revealed the 8344A>G mutation of the MTTK gene of mitochondrial DNA.
The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis.
伴有成人起病的腰带肌无力的疾病鉴别诊断范围广泛，包括运动神经元、神经肌肉接头或肌肉疾病。线粒体DNA的MTTK基因8344A>G突变通常表现为伴有（或不伴有）腰带肌无力的多器官受累。迄今为止，尚无病例报告该突变以孤立的腰带肌无力作为首发症状。
一名57岁男性，有四年进行性腰带肌无力孤立临床体征病史。他是一名具有相同临床特征的59岁女性的兄弟。肌肉活检在诊断中起了决定性作用，具有线粒体肌病的特征。基因分析显示线粒体DNA的MTTK基因8344A>G突变。
线粒体DNA的8344A>G突变可与成人起病的腰带肌无力的临床体征和症状相关，因此必须将其纳入鉴别诊断范围。
