Mitochondrial myopathy lactic acidosis

Mitochondrial Myopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) is a rare multisystem disorder that affects various parts of the body, particularly the muscles and the nervous system. It is one of the most common types of mitochondrial diseases, which are caused by mutations in the DNA that is found in the mitochondria, the energy-producing structures within cells. This article provides an overview of MELAS, including its symptoms, diagnosis, treatment, and prognosis.

Symptoms

MELAS is characterized by a wide range of symptoms, which can vary significantly among affected individuals. The most common symptoms include:

• Muscle weakness and pain
• Lactic acidosis: An abnormal buildup of lactic acid in the body, which can lead to symptoms such as nausea, vomiting, abdominal pain, and rapid breathing.
• Stroke-like episodes: These episodes can include muscle weakness, seizures, altered consciousness, and visual disturbances. Unlike typical strokes, these episodes do not follow the pattern of blood vessels and can improve or worsen spontaneously.
• Hearing loss
• Diabetes mellitus
• Growth retardation

Causes

MELAS is caused by mutations in the mitochondrial DNA. Mitochondria have their own set of DNA, which is separate from the DNA found in the nucleus of the cell. These mutations impair the mitochondria's ability to produce energy, leading to the symptoms of MELAS. The disorder is typically inherited in a matrilineal manner, as mitochondrial DNA is passed from mother to offspring.

Diagnosis

Diagnosis of MELAS involves a combination of clinical evaluation, family history, and specialized tests. These tests may include:

• Muscle biopsy: To look for characteristic abnormalities in muscle tissue.
• Magnetic Resonance Imaging (MRI): To detect brain abnormalities.
• Genetic testing: To identify mutations in mitochondrial DNA.

Treatment

There is no cure for MELAS, and treatment focuses on managing symptoms and preventing complications. Treatment options may include:

• Coenzyme Q10 and other supplements: To help improve energy production in mitochondria.
• Anticonvulsants: To control seizures.
• Physical therapy: To maintain muscle strength and mobility.
• Hearing aids: For hearing loss.

Prognosis

The prognosis for individuals with MELAS varies widely and depends on the severity of symptoms and the age of onset. Stroke-like episodes can lead to progressive neurological damage, which can be life-threatening. Early diagnosis and management of symptoms are crucial to improving quality of life.

See Also

• Mitochondrial disease
• Muscle biopsy
• Genetic testing

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