title: Genetic counseling in mitochondrial disease.
abstract: Mitochondrial diseases are a genetically and clinically diverse group of disorders that arise as a result of dysfunction of the mitochondria. Mitochondrial disorders can be caused by alterations in nuclear DNA and/or mitochondrial DNA. Although some mitochondrial syndromes have been described clearly in the literature many others present as challenging clinical cases with multisystemic involvement at variable ages of onset. Given the clinical variability and genetic heterogeneity of these conditions, patients and their families often experience a lengthy and complicated diagnostic process. The diagnostic journey may be characterized by heightened levels of uncertainty due to the delayed diagnosis and the absence of a clear prognosis, among other factors. Uncertainty surrounding issues of family planning and genetic testing may also affect the patient. The role of the genetic counselor is particularly important to help explain these complexities and support the patient and family's ability to achieve effective coping strategies in dealing with increased levels of uncertainty.
authors.affiliation: Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. jodie.vento@chp.edu
authors.forename: Jodie M
authors.initials: JM
authors.lastname: Vento
authors.forename: Belen
authors.initials: B
authors.lastname: Pappa
mesh_terms: D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D005190:Family; D005193:Family Planning Services; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000517:prevention & control; D005820:Genetic Testing; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000517:prevention & control*; D010375:Pedigree; D018570:Risk Assessment
chemical_list: D004272:DNA, Mitochondrial