Metabolic Myopathies and the Respiratory System

Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle cellular energetics and adenosine triphosphate synthesis. Skeletal and respiratory muscles are the most affected. There are multiple mechanisms of disease. The age of onset and prognosis vary. Metabolic myopathies cause exercise intolerance, myalgia, and an increase in muscle breakdown products during exercise. Some affect smooth muscle such as the diaphragm and cause respiratory failure. The pathophysiology is complex, and the evidence in the literature to guide diagnosis and management is sparse. Treatment is limited. This article discusses the pathophysiology and diagnostic evaluation of these disorders.