In this Article

• What is MELAS?
• What causes MELAS?
• What are the symptoms of MELAS?
• How is MELAS diagnosed?
• When do people with MELAS develop symptoms?
• How is MELAS treated?
• Are there other mitochondrial diseases?
• MELAS Syndrome Glossary
• MELAS Syndrome Index

What are the symptoms of MELAS?

As a result of the disturbed function of their cells' mitochondria, patients with MELAS develop brain dysfunction (encephalopathy) with seizures and headaches, as well as muscle disease with a build-up of lactic acid in the blood (a condition called lactic acidosis), temporary local paralysis (stroke-like episodes), and abnormal thinking (dementia).

How is MELAS diagnosed?

The diagnosis of MELAS is usually suspected on clinical grounds. However, confirmation of the diagnosis usually requires a muscle or brain biopsy. The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes.

When do people with MELAS develop symptoms?

MELAS can affect people at very different times in life, ranging from age 4 to age 40 or more. However, most patients with MELAS syndrome show symptoms before they are 20 years old.

How is MELAS treated?

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.

Are there other mitochondrial diseases?

Yes, mutations (genetic changes) in the mitochondrial chromosome are responsible for a number of other disorders aside from MELAS such as:

• An important eye disease called Leber hereditary optic atrophy ;
• A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and
• A neuromuscular disease called the Kearns-Sayre syndrome .

MELAS and all other mitochondrial diseases were entirely enigmatic before it was discovered that they were due to mutations not in regular chromosomes but in the chromosome of the mitochondria.

Suggested Reading by Our Doctors

• Stroke - Learn about strokes symtoms like sudden numbness or weakness in the face, arms, or legs, confusion, vision problems, problems with walking or coordination, or severe headache.
• Dementia - Learn about the types of dementia, and what causes it, the symptoms, diagnosis, treatment and prevention of this progressive disease.
• Seizure (Epilepsy) - Learn about epilepsy, or seizure disorder. Causes include head injury, trauma, prenatal injury, poisoning, medications, stroke, heart attacks, alcoholism, infection, and more. Symptoms, diagnosis, and treatment information is included in the information.

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