Neurologic Disorders Due to Mitochondrial DNA Mutations

• Published in: Seminars in pediatric neurology Vol. 19; no. 4; pp. 194 - 202
• Main Authors: DeBrosse, Suzanne, MD, Parikh, Sumit, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-12-2012
• Subjects: DNA, Mitochondrial - genetics; Humans; Mitochondrial Diseases - complications; Mitochondrial Diseases - diagnosis; Mitochondrial Diseases - genetics; Mutation; Nervous System Diseases - complications; Nervous System Diseases - diagnosis; Nervous System Diseases - genetics; Neurology; Optic Nerve Diseases - genetics; Pediatrics
• ISSN: 1071-9091; 1558-0776
• DOI: 10.1016/j.spen.2012.09.006

The mitochondrial DNA (mtDNA) is a compact genome inherited through the maternal lineage. Mutations in mtDNA lead to many of the earliest identified syndromic mitochondrial diseases and display a diverse range of age of onset, symptoms, and outcomes—from isolated childhood onset vision or hearing loss to a multisystemic neurodegenerative disorder with strokes, neuropathy, ophthalmoparesis, and epilepsy beginning at any age. As a heterogeneous group, mitochondrial diseases represent one of the most common metabolic disorders in children and adults, frequently seen by both pediatric and adult specialists. Although the myriad of diseases can make diagnosis seems daunting, the need for extensive supportive care and treatment (the latter for at least a select few mitochondrial disorders) and a rapid and accurate recognition of these disorders is necessary. Here, we provide a review of the most common mitochondrial disease syndromes due to mtDNA mutations.