Template:Mitochondrial Disorders Table

From Embryology
Mitochondrial DNA disorder Description Prevalence Life expectancy/morbidity
Kearns–Sayre syndrome Progressive blindness and blocked heart Rare disease Onset before 15
Chronic progressive external opthalmoplegia (CPEO) Progressive wastage of eyelids, eyes and sometimes facial muscles Rare disease Onset in young adulthood
Pearson syndrome Anaemia, pancreatic failure, muscle wastage Very rare (less than 100 worldwide) Early death
Myopathy, encephalopathy, lactic acidosis and stroke (MELAS) Stroke like episodes; muscle spasm; early dementia Rare disease Death before 40
Myoclonic epilepsy and ragged-red fibres (MERFF) Epilepsy, hearing loss, lactic acidosis, short stature 1 in 400,000 across Europe Childhood onset
Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Muscle weakness, vision loss, learning disabilities Rare disease Onset in early childhood. Early death
Maternally inherited Leigh syndrome (MILS) Muscle weakness, heart and kidney failure, delayed development Very rare Onset in infancy. Death in early childhood
Maternally inherited diabetes and deafness (MIDD) Combination of all types of diabetes with deafness Rare disease Adult onset
Leber hereditary optic neuropathy (LHON) Rapid blindness 1 in 30,000 across Europe Range from early childhood to 70s
Myopathy and diabetes Covers forms of muscular dystrophy From infancy. Early death
Sensorineural hearing loss Covers a range of hearing loss through to deafness Common condition but rarely caused by mitochondrial disease Onset at any age
Exercise intolerance Range from lethargy to muscle wastage 1 in 8,000 but symptoms often combine with others Onset in early life
Fatal infantile encephalopathy
(Leigh syndrome)
Brain and nervous system dysfunctions Very rare Onset in infancy. Death in early childhood
Links: Mitochondria | Genetic Abnormalities | Zygote
Table based on Annex D, UK Mitochondrial Donation 2014.