Author Archives: Jose Marques Lopes, PhD

Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been genetically confirmed, a review study suggests. In addition, a definitive diagnosis requires the detection of a disease-related genetic defect, according…

Multiple Consultations, Tests and Misdiagnoses Mark Mitochondrial Patients ‘Odyssey,’ Survey Finds

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study  reporting its results, “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” appeared in the journal Neurology Genetics and…