Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen‐branching enzyme and secondary storage of glycogen in the form of polyglucosan bodies, involving the skeletal muscle, diaphragm, peripheral nerve (including autonomic fibers), brain white matter, spinal cord, nerve roots, cerebellum, brainstem and to a lesser extent heart, lung, kidney, and liver cells. The diversity of new clinical presentations regarding neuromuscular involvement is astonishing and transformed APBD in a key differential diagnosis of completely different clinical conditions, including axonal and demyelinating sensorimotor polyneuropathy, progressive spastic paraparesis, motor neuronopathy presentations, autonomic disturbances, leukodystrophies or even pure myopathic involvement with limb‐girdle pattern of weakness. This review article aims to summarize the main clinical, biochemical, genetic, and diagnostic aspects regarding APBD with special focus on neuromuscular presentations.

中文翻译：

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GBE1 相关疾病：成人多葡聚糖体病及其神经肌肉表型

成人多葡聚糖体病 (APBD) 是一种复杂的常染色体隐性遗传神经代谢疾病，由GBE1 中的纯合子或复合杂合子致病变异引起基因，导致糖原分支酶缺乏和糖原以多聚葡聚糖体的形式二次储存，涉及骨骼肌、横膈膜、周围神经（包括自主神经纤维）、脑白质、脊髓、神经根、小脑、脑干在较小程度上，心脏、肺、肾和肝细胞。关于神经肌肉受累的新临床表现的多样性令人惊讶和转变 APBD 在完全不同的临床状况的关键鉴别诊断中，包括轴突和脱髓鞘性感觉运动性多发性神经病、进行性痉挛性下肢轻瘫、运动神经元病表现、自主神经障碍、脑白质营养不良甚至纯肌病受累肢体带状肌无力。这篇综述文章旨在总结主要的临床、生化、