McArdle disease: what do neurologists need to know?

Area of Science:

• Neurology
• Genetics
• Metabolic Myopathies

Background:

• McArdle disease (glycogen storage disease type V) is a myopathy from inherited myophosphorylase deficiency.
• Patients experience exercise intolerance with symptoms like fatigue, contractures, rhabdomyolysis, and myoglobinuria.
• Clinical presentation shows heterogeneity, necessitating clear diagnostic and management guidelines.

Purpose of the Study:

• To provide neurologists with updated information on McArdle disease.
• To review diagnostic tools and current therapeutic strategies for managing patients.
• To enhance understanding of the disease's features and patient care.

Main Methods:

• Review of diagnostic methods including molecular genetic testing and the ischemic forearm test.
• Discussion of the 'second wind' phenomenon as a diagnostic indicator.
• Analysis of current therapeutic approaches, including dietary modifications and exercise regimens.

Main Results:

• The review details the pathophysiology and clinical manifestations of McArdle disease.
• Diagnostic tools like genetic testing and the ischemic forearm test are evaluated.
• Therapeutic options encompass dietary management, pre-exercise carbohydrate intake, and supervised aerobic training.

Conclusions:

• Effective management of McArdle disease relies on accurate diagnosis and tailored treatment plans.
• A combination of dietary adjustments, strategic carbohydrate intake, and exercise is key.
• Neurologists can improve patient outcomes by applying current knowledge on diagnosis and therapy.