Neurol. praxi. 2022;23(1):24-32 | DOI: 10.36290/neu.2021.049

Metabolic myopathies

MUDr. Hana Kolářová, Ph.D., doc. RNDr. MUDr. Pavel Ješina, Ph.D.

Metabolické centrum, Klinika pediatrie a dědičných poruch metabolismu, Všeobecná fakultní nemocnice, 1. lékařská fakulta Univerzity Karlovy, Praha

Metabolic myopathies are a heterogeneous group of hereditary metabolic disorders characterized by impaired energy metabolism in skeletal muscle. It includes mitochondrial diseases; glycogen storage diseases; fatty acid β-oxidation disorders; carnitine metabolism disorders; and other rather rare entities. From a clinical point of view, metabolic myopathies can be categorized into two different groups: a) those manifesting with acute or subacute exercise intolerance and b) those with fixed symptoms, such as muscle weakness and hypotonia. Present review article is primarily focused on key clinical and laboratory findings of metabolic myopathies that may be encountered by both primary health care physicians or neurology residents.

Keywords: metabolic myopathies, glycogen storage disease, mitochondrial disease, fatty acid β-oxidation disorder.

Received: July 13, 2021; Revised: July 13, 2021; Accepted: July 13, 2021; Prepublished online: July 13, 2021; Published: March 14, 2022  Show citation