MELAS syndrome

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MELAS syndrome

MELAS syndrome (pronounced meh-LAZ), an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare genetic disorder affecting the body's cells.

Etymology

The term MELAS is an acronym derived from the main features of the syndrome: Mitochondrial (referring to the part of the cell affected), Encephalomyopathy (meaning brain and muscle disease), Lactic Acidosis (a buildup of lactic acid in the body), and Stroke-like episodes (sudden onset symptoms similar to those of a stroke).

Definition

MELAS syndrome is a condition that affects many of the body's systems, particularly the brain and nervous system (neurological) and muscles (myopathic). This condition is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.

Symptoms

The most common initial symptoms of MELAS syndrome include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. More severe symptoms can include stroke-like episodes, which may involve temporary muscle weakness, vision loss, or seizures.

Causes

MELAS syndrome is caused by mutations in the genetic material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance.

Treatment

There is currently no cure for MELAS syndrome. Treatment is symptomatic and supportive. This may include anticonvulsant medication for seizures, physical therapy to improve strength and mobility, and treatments to manage diabetes and heart disease.

Related Terms

External links

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