Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.
A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement.
We present detailed clinical characteristics of five patients with CMS caused by DPAGT1 mutations.
Patients have prominent limb girdle weakness and minimal craniobulbar symptoms. Tubular aggregates on muscle biopsy are characteristic but may not be apparent on early biopsies. Typical myasthenic features such as pyridostigmine and 3, 4- diaminopyridine responsiveness, and decrement on repetitive nerve stimulation are present.
These patients mimic myopathic disorders and are likely to be under-diagnosed. The descriptions here should facilitate recognition of this disorder. In particular minimal craniobulbar involvement and tubular aggregates on muscle biopsy help to distinguish DPAGT1 CMS from the majority of other forms of CMS. Patients with DPAGT1 CMS share similar clinical features with patients who have CMS caused by mutations in GFPT1, another recently identified CMS subtype.
最近报道了一种由 DPAGT1 突变引起的新定义的先天性肌无力综合征（CMS）。虽然许多其他 CMS 相关蛋白具有定位于神经肌肉接头的离散作用，但 DPAGT1 广泛表达，修饰许多蛋白，因此是孤立性神经肌肉受累的意外原因。
我们介绍了五例由 DPAGT1 突变引起的 CMS 患者的详细临床特征。
患者有明显的四肢带肌无力，颅神经症状轻微。肌肉活检上的管状聚集物是特征性的，但早期活检可能不明显。存在典型的肌无力特征，如吡啶斯的明和 3、4-二氨基吡啶反应性，以及重复神经刺激的递减。
这些患者类似于肌病性疾病，可能被误诊。这里的描述应有助于识别这种疾病。特别是轻微的颅神经受累和肌肉活检上的管状聚集物有助于将 DPAGT1 CMS 与大多数其他形式的 CMS 区分开来。具有 DPAGT1 CMS 的患者与由 GFPT1 突变引起的 CMS 患者具有相似的临床特征，GFPT1 是另一种最近确定的 CMS 亚型。
