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MELAS Syndrome (cont.)

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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.

Reviewed by Jon Glass, MD; American board of Psychiatry and Neurology REFERENCE: "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" National Institutes of Health


Medically Reviewed by a Doctor on 12/12/2013

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Source: MedicineNet.com
http://www.medicinenet.com/melas_syndrome/article.htm

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