Year: 2024
Type: article
Study design: Case Report
Abstract: McArdle disease is a rare myopathy caused by hereditary myophosphorylase deficiency. It presents nonspecific symptoms, such as intolerance to physical exercise, early fatigue, and myalgias, and represents a paradigmatic example of one of the main challenges in clinical practice: the recognition of nonspecific and common symptoms as clinically relevant manifestations of rare diseases. The nonspecificity of symptoms leads to a frequent delay from the onset of first clinical signs to diagnosis. We present a case of McArdle disease diagnosed in a Portuguese adult patient. We believe this report will highlight the need to enhance knowledge and awareness about this rare pathology to diagnose and manage these patients promptly.
Source: Cureus
DOI: 10.7759/cureus.76010
Authors: Sara Pereira, Paula Cerqueira, Sabina Azevedo, Marta Pereira, Selmira Faraldo
Institution: Unidade Local de Saúde do Alto Minho
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4405569186