title: Neuromuscular Manifestations in Mitochondrial Diseases in Children.
abstract: Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy. This review describes the main neuromuscular symptomatology through different syndromes reported in the literature and from our experience. We want to highlight the importance of searching for the "clue clinical signs" associated with inheritance pattern as key elements to guide the complex diagnosis process and genetic studies in mitochondrial diseases.
authors.affiliation: Department of Neurology, Neuromuscular Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain. Electronic address: anascimento@hsjdbcn.org.
authors.forename: Andrés
authors.initials: A
authors.lastname: Nascimento
authors.affiliation: Department of Neurology, Neuromuscular Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Ortez
authors.affiliation: Department of Neurology, Neuromuscular Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Jou
authors.affiliation: Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain; Department of Neurology, Neurometabolic Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Mar
authors.initials: M
authors.lastname: O'Callaghan
authors.affiliation: Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain; Department of Neurology, Neurometabolic Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Federico
authors.initials: F
authors.lastname: Ramos
authors.affiliation: Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain; Department of Neurology, Neurometabolic Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Àngels
authors.initials: À
authors.lastname: Garcia-Cazorla
mesh_terms: D002648:Child; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications*; D009468:Neuromuscular Diseases / Q000209:etiology / Q000503:physiopathology*