Yang Shangyi, Yang Jine
Department of Neurology, Hebei Cangzhou Hospital of Integrated Traditional Chinese Medicine and Western Medicine, Cangzhou 061000, China.
Mol Genet Metab Rep. 2025 Jul 1;44:101240. doi: 10.1016/j.ymgmr.2025.101240. eCollection 2025 Sep.
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the gene leads to a reduction in sialic acid synthesis. However, whether it is associated with premature ovarian failure (POF) isunknown. Here we report a case of GNE-M with premature ovarian failure (GNE-M-POF). The clinical data of a case of GNE-M-POF in our hospital were collected. The historical trajectory, molecular features, diagnosis and treatment were analyzed retrospectively, and the literature was reviewed. Over the course of 12 years, the patient presents with a slow and progressively worsening clinical manifestation. She was amenorrheic at the age of 35 and never conceived. Her calf muscles, and some of her thigh muscles were severely atrophied, leaving her unable to walk on her own. POF may be an extra-muscular manifestation of GNE-M, and further research is needed to verify the association.
GNE肌病（GNE-M）是一种极为罕见的疾病，其特征为四肢肌肉无力。主要病因是该基因的致病性变异导致唾液酸合成减少。然而，其是否与卵巢早衰（POF）相关尚不清楚。在此，我们报告一例伴有卵巢早衰的GNE-M（GNE-M-POF）病例。收集了我院一例GNE-M-POF患者的临床资料。回顾性分析其病史、分子特征、诊断及治疗情况，并复习相关文献。在12年的病程中，患者临床表现缓慢且逐渐加重。她35岁时闭经，从未怀孕。她的小腿肌肉以及部分大腿肌肉严重萎缩，无法独立行走。POF可能是GNE-M的一种肌肉外表现，需要进一步研究以证实这种关联。
