Preferred Label : Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes;
ICD-11 definition : MELAS (Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is a progressive
neurodegenerative disorder characterized by acute neurological episodes resembling
strokes associated with hyperlactatemia and mitochondrial myopathy. The exact prevalence
of the disease is unknown. Patients usually present during childhood or early adulthood
with acute crises, which may be triggered by infection or physical exercise. These
crises associate cephalalgia, vomiting and sometimes pseudo-stroke signs, such as
confusion, hemiparesia and hemianopsia. They often occur in patients with chronic
symptoms such as muscle weakness, deafness, diabetes, short stature, cardiomyopathy,
developmental delay, learning difficulties, memory loss or attention disorders. The
disease is caused by mitochondrial DNA mutations.;
ICD-11 synonym : MELAS - [Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes]; MELAS - [Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes]
syndrome; MELAS syndrome;
ICD-11 acronym : MELAS;
Origin ID : 1369657886;
Currated CISMeF NLP mapping
MELAS (Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is a progressive
neurodegenerative disorder characterized by acute neurological episodes resembling
strokes associated with hyperlactatemia and mitochondrial myopathy. The exact prevalence
of the disease is unknown. Patients usually present during childhood or early adulthood
with acute crises, which may be triggered by infection or physical exercise. These
crises associate cephalalgia, vomiting and sometimes pseudo-stroke signs, such as
confusion, hemiparesia and hemianopsia. They often occur in patients with chronic
symptoms such as muscle weakness, deafness, diabetes, short stature, cardiomyopathy,
developmental delay, learning difficulties, memory loss or attention disorders. The
disease is caused by mitochondrial DNA mutations.
