Template:Mitochondrial Disorders Table: Difference between revisions
From Embryology
(Created page with " {| |-bgcolor="CEDFF2" ! Mitochondrial DNA disorder ! Description ! Prevalence ! Life expectancy/morbidity |- | Kearns–Sayre syndrome | Progressive blindness and blocked he...") |
mNo edit summary |
||
(8 intermediate revisions by the same user not shown) | |||
Line 12: | Line 12: | ||
| Onset before 15 | | Onset before 15 | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | Chronic progressive external opthalmoplegia (CPEO) | ||
| Progressive wastage of eyelids, eyes and sometimes facial muscles | | Progressive wastage of eyelids, eyes and sometimes facial muscles | ||
| Rare disease | | Rare disease | ||
Line 22: | Line 22: | ||
| Early death | | Early death | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | Myopathy, encephalopathy, lactic acidosis and stroke (MELAS) | ||
| Stroke like episodes; muscle spasm; early dementia | | Stroke like episodes; muscle spasm; early dementia | ||
| Rare disease | | Rare disease | ||
| Death before 40 | | Death before 40 | ||
|- | |- | ||
| | | Myoclonic epilepsy and ragged-red fibres (MERFF) | ||
| Epilepsy, hearing loss, lactic acidosis, short stature | | Epilepsy, hearing loss, lactic acidosis, short stature | ||
| 1 in 400,000 across Europe | | 1 in 400,000 across Europe | ||
| Childhood onset | | Childhood onset | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) | ||
| Muscle weakness, vision loss, learning disabilities | | Muscle weakness, vision loss, learning disabilities | ||
| Rare disease | | Rare disease | ||
| Onset in early childhood. Early death | | Onset in early childhood. Early death | ||
|- | |- | ||
| | | Maternally inherited Leigh syndrome (MILS) | ||
| Muscle weakness, heart and kidney failure, delayed development | | Muscle weakness, heart and kidney failure, delayed development | ||
| Very rare | | Very rare | ||
| Onset in infancy. Death in early childhood | | Onset in infancy. Death in early childhood | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | Maternally inherited diabetes and deafness (MIDD) | ||
| Combination of all types of diabetes with deafness | | Combination of all types of diabetes with deafness | ||
| Rare disease | | Rare disease | ||
| Adult onset | | Adult onset | ||
|- | |- | ||
| | | Leber hereditary optic neuropathy (LHON) | ||
| Rapid blindness | | Rapid blindness | ||
| 1 in 30,000 across Europe | | 1 in 30,000 across Europe | ||
Line 67: | Line 67: | ||
| Onset in early life | | Onset in early life | ||
|- | |- | ||
| Fatal infantile encephalopathy (Leigh syndrome) | | Fatal infantile encephalopathy<br>(Leigh syndrome) | ||
| Brain and nervous system dysfunctions | | Brain and nervous system dysfunctions | ||
| Very rare | | Very rare | ||
| Onset in infancy. Death in early childhood | | Onset in infancy. Death in early childhood | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| colspan= | | colspan=2| | ||
|}<noinclude>[[Category:Template]][[Category:Mitochondria]][[Category:Table]][[Category:Abnormal Development]]</noinclude> | :'''Links:''' [[Mitochondria]] | [[Abnormal_Development_-_Genetic|Genetic Abnormalities]] | [[Zygote]] | ||
| colspan=2|Table based on Annex D, [https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/285251/mitochondrial_donation_consultation_document_24_02_14_Accessible_V0.4.pdf UK Mitochondrial Donation 2014]. | |||
|} | |||
<noinclude>[[Category:Template]][[Category:Mitochondria]][[Category:Table]][[Category:Abnormal Development]]</noinclude> |
Latest revision as of 10:07, 12 February 2015
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 |
|
Table based on Annex D, UK Mitochondrial Donation 2014. |