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Childhood myocerebrohepatopathy spectrum (MCHS) is classified as a POLG-related disorder, a group of conditions sharing similar signs and symptoms affecting muscles, nerves, and the brain. MCHS typically manifests between a few months and 3 years of age, impacting muscle (myo-), brain (cerebro-), and liver (hepato-) functions.
Frequently observed signs and symptoms of MCHS include muscle weakness (myopathy), delayed development or decline in intellectual abilities, and liver disease. Lactic acidosis, caused by a buildup of lactic acid, can also occur. Affected children often struggle to gain weight and achieve expected growth (failure to thrive).
Other potential features of MCHS include renal tubular acidosis (a kidney disease), pancreatitis (inflammation of the pancreas), cyclic vomiting (recurrent episodes of nausea and vomiting), and hearing loss.
MCHS follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must have mutations for the condition to develop. Individuals with only one copy of the mutated gene, typically the parents, are carriers but usually do not exhibit any signs or symptoms of MCHS.
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