What syndromes occur with mitochondrial disease?
Note: Typically, these syndromes are inherited in either a maternal pattern or a so-called Mendelian pattern, and/or they’re sporadic, which means occurring with no family history. For more information about inheritance, see “Does it Run in the Family?”. KSS: Kearns-Sayre syndrome Inheritance pattern: sporadic Onset: before age 20 Features: This disorder is defined by PEO (usually as the initial symptom) and pigmentary retinopathy, a “salt-and-pepper” pigmentation in the retina that can affect vision, but often leaves it intact. Other common symptoms include conduction block (in the heart) and ataxia. Less typical symptoms are mental retardation or deterioration, delayed sexual maturation and short stature. Leigh syndrome: subacute necrotizing encephalomyopathy (MILS = maternally inherited Leigh syndrome) Inheritance pattern: maternal, Mendelian Onset: infancy Features: Leigh syndrome causes brain abnormalities that can result in ataxia, seizures, impaired vision and hearing, developme
