Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
OMIM	540000
DiseasesDB	8254
MeSH	D017241

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes, abbreviated to MELAS is one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's Hereditary Optic Atrophy. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The disease can manifest in both sexes.

Diagnosis

Symptoms

MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).

Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.

Natural History, Complications and Prognosis

Prognosis

There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. Antioxidants and vitamins have been used, but there have been no consistent successes reported.

References

• Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome". Ann Neurol. 16 (4): 481–8. PMID 6093682.CS1 maint: Multiple names: authors list (link)
• Hirano M, Pavlakis SG (1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts". J Child Neurol. 9 (1): 4–13. PMID 8151079.
• Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP (1992). "Melas: an original case and clinical criteria for diagnosis". Neuromuscul Disord. 2 (2): 125–35. PMID 1422200.CS1 maint: Multiple names: authors list (link)
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes at NLM Genetics Home Reference

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