Sensory ataxic neuropathy, dysarthria and ophthalmoparesis |
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Prevalence (%) of clinical parameters based on data from 4 references describing 42 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Seizures | nervous | 100 % | 15824347 | 2011-10-19 | |
| Muscle weakness | skeletal | 100 % | 14745080 | 2011-10-10 | |
| Ophthalmoplegia | nervous | 100 % | 15824347 | 2011-10-14 | |
| Ataxia | nervous | 100 % | 14745080 | 2011-10-09 | |
| Gait disturbances | nervous | 100 % | 14745080 | 2011-10-09 | |
| Ptosis | nervous | 100 % | 14745080 | 2011-10-10 | |
| Ophthalmoplegia | nervous | 100 % | 14745080 | 2011-10-10 | |
| Myoclonus | nervous | 100 % | 15824347 | 2011-10-09 | |
| Neuropathy | nervous | 100 % | 14745080 | 2011-10-10 | |
| Ataxia | nervous | 100 % | 15477547 | 2011-10-10 | |
| Ophthalmoplegia | nervous | 75 % | 15477547 | 2011-10-13 | |
| Hearing loss | nervous | 50 % | 14745080 | 2011-10-10 | |
| Neuropathy | nervous | 34 % | 19752458 | 2011-10-10 | |
| Ataxia | nervous | 34 % | 19752458 | 2011-10-10 | |
| Ophthalmoplegia | nervous | 34 % | 19752458 | 2011-10-10 |
List of references:
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
S Winterthun, G Ferrari, L He, R W Taylor, M Zeviani, D M Turnbull, B A Engelsen, G Moen, L A Bindoff,
Neurology - Apr 2005
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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
G Van Goethem, P Luoma, M Rantamäki, A Al Memar, S Kaakkola, P Hackman, R Krahe, A Löfgren, J J Martin, P De Jonghe, A Suomalainen, B Udd, C Van Broeckhoven,
Neurology - Oct 2004
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