Prevalence and progression of mitochondrial diseases: a study of 50 patients
Female; Humans; Male; Adult; Aged; Middle Aged; Disease Progression; Survival Analysis; Phenotype; adolescent; IM; Age of Onset; Electromyography; Chronic Progressive External/ep [Epidemiology]; Chronic Progressive External/ge [Genetics]; Chronic Progressive External/pa [Pathology]; DNA; Epilepsies; Lactic Acid/bl [Blood]; MELAS Syndrome/ep [Epidemiology]; MELAS Syndrome/ge [Genetics]; MELAS Syndrome/pa [Pathology]; Mitochondrial Diseases/ep [Epidemiology]; Mitochondrial Diseases/ge [Genetics]; Mitochondrial Diseases/pa [Pathology]; Mitochondrial/ge [Genetics]; Muscle; Myoclonic/ep [Epidemiology]; Myoclonic/ge [Genetics]; Myoclonic/pa [Pathology]; Neural Conduction/ph [Physiology]; Ophthalmoplegia; Skeletal/pa [Pathology]; Spain/ep [Epidemiology]
We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.
2003
Arpa J; Cruz-Martinez A; Campos Y; Gutierrez-Molina M; Garcia-Rio F; Perez-Conde C; Martin MA; Rubio JC; Del Hoyo P; Arpa-Fernandez A; Arenas J
Muscle & Nerve
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">10.1002/mus.10507</a>
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
Child; Female; Humans; infant; Male; Cohort Studies; Follow-Up Studies; Severity of Illness Index; Survival Analysis; Longitudinal Studies; Probability; Time Factors; Proportional Hazards Models; Preschool; infant; Q3 Literature Search; Newborn; AIM; IM; retrospective studies; cause of death; DNA; Mitochondrial Diseases/ge [Genetics]; Mitochondrial/ge [Genetics]; MELAS Syndrome/di [Diagnosis]; Mitochondrial Encephalomyopathies/di [Diagnosis]; DNA Fragmentation; HEREDITARY; Leber/di [Diagnosis]; Leber/ge [Genetics]; Leber/mo [Mortality]; MELAS Syndrome/mo [Mortality]; MELAS Syndrome/th [Therapy]; Mitochondrial Diseases/di [Diagnosis]; Mitochondrial Diseases/mo [Mortality]; Mitochondrial Encephalomyopathies/mo [Mortality]; Mitochondrial Encephalomyopathies/th [Therapy]; Mitochondrial Myopathies/di [Diagnosis]; Mitochondrial Myopathies/ge [Genetics]; Mitochondrial Myopathies/mo [Mortality]; Optic Atrophy
OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73 children diagnosed between 1985 and 2005. The functional status of living patients was assessed prospectively by using the standardized Functional Independence Measure scales. RESULTS: Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific encephalopathy (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy (5%). Age at first symptoms ranged from prenatal to 16 years (median: 7 months). Neurologic symptoms were the most common (90%). Visceral involvement was observed in 29% of the patients. A biochemical or molecular diagnosis was identified for 81% of the patients as follows: deficiency of complex IV (27%), of pyruvate dehydrogenase or complex I (25% each), of multiple complexes (13%), and of pyruvate carboxylase (5%) or complexes II+III (5%). A mitochondrial DNA mutation was found in 20% of patients. At present, 46% of patients have died (median age: 13 months), 80% of whom were 5 years (n = 32), 62% had Functional Independence Measure quotients of >0.75. CONCLUSIONS: Mitochondrial diseases in children span a wide range of symptoms and severities. Age at first symptoms is the strongest predictor mortality. Despite a high mortality rate in the cohort, 62% of patients aged >5 years have only mild impairment or normal functional outcome.
2007
Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA
Pediatrics
2007
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1542/peds.2006-1866" target="_blank" rel="noreferrer">10.1542/peds.2006-1866</a>