Mitochondrial encephalopathy.
Mitochondrial disorders cause a wide spectrum of diseases in children. Their presentation is nonspecific with encephalomyopathy, failure to thrive, seizures, ophthalmoplegia, and sensorineural hearing loss. These disorders are progressive and are aggravated by fever and infections. They can be caused by mutations in nDNA or mtDNA. Diagnosis requires a complex battery of clinical studies coupled with diagnostic findings on muscle biopsy (abnormal structure, histochemistry, or enzyme studies) or DNA testing. Therapy for mitochondrial disorders remains largely ineffective.
Longo
Nicola
N
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA. Nicola.Longo@hsc.utah.edu
D001706:Biopsy; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology
D004272:DNA, Mitochondrial