Work

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report

Year: 2024

Type: article

Abstract: BACKGROUND: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. CASE PRESENTATION: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene. CONCLUSION: This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.

Source: Journal of Medical Case Reports

DOI: 10.1186/s13256-024-04802-x

Authors: Johannes Stalter, Ursula Gies, Christian Mathys, Karsten Witt

Institutions: Carl von Ossietzky Universität Oldenburg, Evangelisches Krankenhaus Oldenburg, Klinikum Bremen-Mitte, Heinrich Heine University Düsseldorf

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,790