Template talk: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 |
CPEO (chronic progressive external opthalmoplegia) | 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 |
MELAS (myopathy, encephalopathy, lactic acidosis and stroke) | Stroke like episodes; muscle spasm; early dementia | Rare disease | Death before 40 |
MERFF (myoclonic epilepsy and ragged-red fibres) | Epilepsy, hearing loss, lactic acidosis, short stature | 1 in 400,000 across Europe | Childhood onset |
NARP (neurogenic weakness, ataxia and retinitis pigmentosa) | Muscle weakness, vision loss, learning disabilities | Rare disease | Onset in early childhood. Early death |
MILS (maternally inherited Leigh syndrome) | Muscle weakness, heart and kidney failure, delayed development | Very rare | Onset in infancy. Death in early childhood |
MIDD (maternally inherited diabetes and deafness) | Combination of all types of diabetes with deafness | Rare disease | Adult onset |
LHON (Leber hereditary optic neuropathy) | 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 |
Table based on Annex D, UK Mitochondrial Donation 2014. |