title: The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.
abstract: The diagnosis of a mitochondrial disorder is often difficult. Therefore, new approaches and diagnostic criteria are being developed. One of these tests is the aerobic forearm exercise test, a screening tool that can contribute to assess whether or not the patient suffers from a mitochondrial myopathy. With this simple, non-invasive test, the oxidative metabolism of muscle can be evaluated in rest and during exercise. We performed the aerobic forearm exercise test in patients with a mitochondrial disorder and an identified pathogenic gene mutation, in patients with a suspected mitochondrial disorder based on their clinical presentation and biochemical results, but without a molecular diagnosis, and in patients with atypical fatigue and no characteristics of a mitochondrial myopathy. In the first two groups, abnormal oxygen extraction from the blood during exercise was observed in four out of twelve patients. In the third group no abnormalities were found. The number of patients that we could test so far was limited, but all the patients experienced the aerobic forearm exercise as an easy test. We would like to stimulate clinicians to perform this test whenever a mitochondrial myopathy is suspected, as it can be a valuable diagnostic screening tool.
authors: Center for Medical Genetics, Vrije Universiteit Brussel.
authors: Ann
authors: A
authors: Meulemans
authors: Erik
authors: E
authors: Gerlo
authors: Sara
authors: S
authors: Seneca
authors: Willy
authors: W
authors: Lissens
authors: Joél
authors: J
authors: Smet
authors: Rudy
authors: R
authors: Van Coster
authors: Linda
authors: L
authors: De Meirleir
mesh_terms: D000293:Adolescent; D000328:Adult; D001784:Blood Gas Analysis; D003937:Diagnosis, Differential; D015444:Exercise; D005080:Exercise Test / Q000379:methods*; D017079:Exercise Tolerance; D005260:Female; D005542:Forearm / Q000503:physiopathology; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000503:physiopathology*; D010085:Oxidative Phosphorylation; D010100:Oxygen / Q000378:metabolism; D010101:Oxygen Consumption; D010809:Physical Fitness; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity
chemical_list: D019344:Lactic Acid; D010100:Oxygen