title: An overview of neurological and neuromuscular signs in mitochondrial diseases.
abstract: Mitochondrial disorders have a broad clinical spectrum and are genetically heterogeneous, involving two genomes. These disorders may be develop at any age, with isolated or multiple system involvement, and any pattern of inheritance. Neurological involvement is the most frequent, and concerns muscular, peripheral and central nervous system. Among these diverse signs, some are suggestive of mitochondrial disease, such as progressive external ophthalmoplegia, exercise intolerance, psychomotor regression, stroke-like episodes, refractory epilepsy and Epilepsia Partialis Continua. Others are less specific and mitochondrial hypothesis may be evocated because of either association of different neuromuscular signs or a multisystemic involvement. This review describes the wealth of this neurological and neuromuscular symptomatology through different syndromes reported in the literature, according to preponderant signs and to modes of inheritance, as key elements to guide genetics testing.
authors.affiliation: Department of medical genetics, National centre for mitochondrial diseases, Nice teaching hospital, Nice, France; IRCAN, UMR CNRS 7284/Inserm U1081/UNS, Nice Sophia-Antipolis University, Nice, France. Electronic address: chaussenot.a@chu-nice.fr.
authors.forename: A
authors.initials: A
authors.lastname: Chaussenot
authors.affiliation: Department of medical genetics, National centre for mitochondrial diseases, Nice teaching hospital, Nice, France; IRCAN, UMR CNRS 7284/Inserm U1081/UNS, Nice Sophia-Antipolis University, Nice, France.
authors.forename: V
authors.initials: V
authors.lastname: Paquis-Flucklinger
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial
keywords: ADNmt; Ataxie cérébelleuse; Cerebellar ataxia; Exercise intolerance; Génome nucléaire; Intolérance à l’effort; Maladies mitochondriales; Mitochondrial diseases; Mouvements anormaux; Movement disorders; MtDNA; Nuclear genome; Ophtalmoplégie progressive externe; Progressive external ophthalmoplegia; Refractory epilepsy; Épilepsie pharmaco-résistante