MELAS: clinical features
Evidence-based neurology checklist on melas: clinical features: Genetics and pathology This is usually caused by the m.3243A>G tRNALeu (UUR) mutation The pathology is characterised by ragged-red fibers and type 1 fiber dominance The mitochondria are abnormal Stroke-like episodes Headaches…
Genetics and pathology
- This is usually caused by the m.3243A>G tRNALeu (UUR) mutation
- The pathology is characterised by ragged-red fibers and type 1 fiber dominance
- The mitochondria are abnormal
Stroke-like episodes
Headaches
Cognitive and encephalopathic features
Seizures
Other neurological features
Endocrine features
Cardiac features
Gastrointestinal features
Ophthalmic features
Other features
Suggested expanded phenotype: MCARNE
Differential diagnosis
Acronym
References
- McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
- Koo B, Becker LE, Chuang S, et al. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 1993; 34:25-32.
- Fan HC, Lee HF, Yue CT, Chi CS. Clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Life (Basel) 2021; 11:1111.
- Nesbitt V, Pitceathly RD, Turnbull DM, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management. JNNP 2013; 84:936-938.
- Iizuka T, Sakai F, Suzuki N, Hata T, Tsukahara S, Fukuda M, Takiyama Y. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology 2002; 59:816-824.
- And 5 more. Subscribe to see the full list
