Mitochondrial encephalomyopathy

Mitochondrial Encephalomyopathy (pronunciation: mi-to-kon-dree-al en-sef-a-lo-mi-op-a-thee) is a term used to describe a group of disorders that primarily affect the brain and muscles. These disorders are caused by genetic mutations that lead to dysfunction in the mitochondria, the energy-producing structures within cells.

Etymology

The term "Mitochondrial Encephalomyopathy" is derived from three Greek words: "mitos" meaning thread, "chondrion" meaning granule, "encephalo" referring to the brain, and "myopathy" meaning muscle disease.

Symptoms

Symptoms of Mitochondrial Encephalomyopathy can vary widely in severity and can include muscle weakness, neurological problems, cardiac disease, diabetes, respiratory complications, and gastrointestinal disorders.

Diagnosis

Diagnosis of Mitochondrial Encephalomyopathy is often challenging due to the wide range of symptoms and their varying severity. It typically involves a combination of clinical evaluation, genetic testing, and biochemical testing.

Treatment

There is currently no cure for Mitochondrial Encephalomyopathy. Treatment is symptomatic and supportive, and can include physical therapy, occupational therapy, and various medications to manage symptoms.

Related Terms

• Mitochondrial diseases
• Encephalopathy
• Myopathy
• Leigh syndrome
• MELAS syndrome
• Kearns-Sayre syndrome

External links

• Medical encyclopedia article on Mitochondrial encephalomyopathy
• Wikipedia's article - Mitochondrial encephalomyopathy

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