Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Neuromuscul Disord. 2023 Sep;33(9):98-105. doi: 10.1016/j.nmd.2023.07.004. Epub 2023 Jul 23.
Glycogen storage disease type IV (GSD IV) is caused by mutations in the glycogen branching enzyme 1 (GBE1) gene and is characterized by accumulation of polyglucosan bodies in liver, muscle and other tissues. We report three cases with neuromuscular forms of GSD IV, none of whom had polyglucosan bodies on muscle biopsy. The first case had no neonatal problems and presented with delayed walking. The other cases presented at birth: one with arthrogryposis, hypotonia, and respiratory distress, the other with talipes and feeding problems. All developed a similar pattern of axial weakness, proximal upper limb weakness and scapular winging, and much milder proximal lower limb weakness. Our cases expand the phenotypic spectrum of neuromuscular GSD IV, highlight that congenital myopathy and limb girdle weakness can be caused by mutations in GBE1, and emphasize that GSD IV should be considered even in the absence of characteristic polyglucosan bodies on muscle biopsy.
糖原贮积病Ⅳ型（GSD IV）是由糖原分支酶 1（GBE1）基因突变引起的，其特征是肝脏、肌肉和其他组织中聚葡聚糖体的积累。我们报告了三例神经肌肉型 GSD IV 病例，这些病例的肌肉活检均未见聚葡聚糖体。第一例患者无新生儿问题，表现为行走延迟。其他两例患者均在出生时发病：一例有关节挛缩、低张力和呼吸窘迫，另一例有马蹄内翻足和喂养问题。所有患者均表现出相似的轴向无力、近端上肢无力和肩胛骨翼状突出，以及较轻的近端下肢无力。我们的病例扩展了神经肌肉型 GSD IV 的表型谱，强调了先天性肌病和肢体带肌无力可由 GBE1 突变引起，并强调即使肌肉活检未见特征性聚葡聚糖体，也应考虑 GSD IV。
