Understanding MELAS syndrome: Causes, Symptoms, and Management

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MELAS syndrome

by Alike Medical Team ∙ Updated on June 13, 2023

General

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. Early symptoms include seizures, headaches, loss of appetite, and vomiting. As well as stroke-like episodes, temporary muscle weakness on one side of the body (hemiparesis) may occur, resulting in altered consciousness, vision and hearing loss, loss of motor skills, and intellectual disability. Mutations in mitochondrial DNA cause MELAS, and in one case, POLG1 mutations caused this syndrome.

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Signs & symptoms

In the same family and between different families, MELAS syndrome is characterized by a wide range of symptoms and physical findings. Strokes-like episodes are recurrent in MELAS syndrome. Strokes-like episodes may be caused by a deficiency of a compound called nitric oxide in the small blood vessels of the brain. Fatigue and difficulty tolerating exercise may be early symptoms, as well as short stature and hearing loss.

Diagnosis

Clinical findings and molecular genetic testing are used to diagnose MELAS. To look for stroke-like lesions in the brain, magnetic resonance imaging (MRI) may be used, while magnetic resonance spectroscopy (MRS) may be used to find lactate peaks.

Treatment

MELAS syndrome does not have a specific treatment. Anticonvulsant drugs are used to prevent and control seizures associated with MELAS syndrome. In some patients, coenzyme q10 and L-carnitine have been beneficial. Families and individuals affected by genetic disorders are advised to seek genetic counseling.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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