# GNE myopathy with premature ovarian failure: Case report and review of the literature

## TL;DR

This paper reports a rare case of GNE myopathy combined with premature ovarian failure, suggesting a possible new extra-muscular manifestation of the disease.

## Contribution

The paper presents the first reported case linking GNE myopathy with premature ovarian failure.

## Key findings

- A patient with GNE myopathy also exhibited premature ovarian failure.
- The patient showed progressive muscle atrophy and infertility, indicating potential extra-muscular effects of the disease.
- Further research is needed to confirm the association between GNE myopathy and ovarian failure.

## Abstract

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 GNE 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 myopathy(GNE-M) is an ultra-rare disease, which begins with muscle weakness.•Some extra-muscular manifestations associated with GNE-M have been reported.•There are few descriptions in the literature of GNE-M involving reproduction, such as premature ovarian failure (POF), and whether it is associated with POF is unknown.•Herein, we report a case of GNE-M with POF.

GNE myopathy(GNE-M) is an ultra-rare disease, which begins with muscle weakness.

Some extra-muscular manifestations associated with GNE-M have been reported.

There are few descriptions in the literature of GNE-M involving reproduction, such as premature ovarian failure (POF), and whether it is associated with POF is unknown.

Herein, we report a case of GNE-M with POF.