Sengers Syndrome
Overview
Cataract cardiomyopathy characterized by congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. When patients perform submaximal prolonged exercise, they develp lactic acidemia. A bilateral and total cataract appears and progresses quickly in the first few weeks of life, requiring surgery.
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Symptoms
- muscular hypotonia
- delayed motor development
- easily fatigued
- congenital cataracts
- hypertrophic cardiomyopathy
- mitochondrial myopathy
- lactic acidosis
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Causes
Autosomal recessive disorder
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Treatment
surgical removal of cataracs may be indicated