# Camptocormia as a feature of Mc Ardle's disease: A case report

## TL;DR

A patient with McArdle's disease showed camptocormia, a rare symptom not typically associated with this condition, highlighting the need for broader recognition of its features.

## Contribution

This case report highlights camptocormia as a potential initial feature of McArdle's disease, which is rarely recognized.

## Key findings

- The patient exhibited camptocormia along with typical exercise intolerance and a 'second wind' phenomenon.
- Molecular analysis identified two variants in the PYGM gene: c.148C > T and c.1471C > T.
- Severe axial myopathy, including camptocormia, may be an under-recognized initial feature of GSD 5.

## Abstract

Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the PYGM gene the common c.148C > T [p.(Arg50*)] variant and a missense variant in exon 12, c.1471C > T [p.(Arg491Cys)]. GSD 5 and Pompe disease are both glycogen storage diseases in which axial involvement has been described. Although probably underestimated, severe axial myopathy has been rarely reported in GSD 5. We suggest that the long-lasting symptoms associated with camptocormia should be considered as possible initial features of GSD 5.