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All Diseases > Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome (MILS)
Alternative Names: Maternal Inherited Infantile or Juvenile Subacute Necrotizing Encephalopathy; Maternal Inherited Subacute Necrotizing Encephalomyelopathy
Disease Category: Mitochondrial Disorders
A rare disorder caused by genetic mutations in the DNA of mitochondria (specialized cell structures that produce energy) which leads to severe brain damage. Mitochondrial DNA can only be passed along from mothers, making this disorder "maternally inherited." Symptoms manifest in infancy, including psychomotor regression (loss of mental and motor skills), dysphagia (difficulty swallowing), feeding and growth problems, hypotonia (low muscle tone), diarrhea, vomiting, involuntary muscle movements, ataxia (lack of coordination), peripheral neuropathy (sensory loss and muscle weakness in the extremities), lactic acidosis (high blood lactate levels), hypertrophic cardiomyopathy (heart muscle thickening), and respiratory failure.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.