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Prevalence (%) of clinical parameters based on data from 2 references describing 38 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Ophthalmoplegia |
nervous |
100 % |
17620490 |
2011-10-11 |
|
Ptosis |
nervous |
97 % |
20479361 |
2011-10-11 |
|
Ophthalmoplegia |
nervous |
94 % |
20479361 |
2011-10-19 |
|
Tremor |
nervous |
60 % |
17620490 |
2011-10-10 |
|
Parkinsonism |
nervous |
60 % |
17620490 |
2011-10-10 |
|
Fatigue |
skeletal |
52 % |
20479361 |
2011-10-05 |
|
Cox-negative muscle fibers |
skeletal |
40 % |
17620490 |
2011-10-05 |
|
Muscle weakness |
skeletal |
33 % |
20479361 |
2011-10-11 |
|
Cardiomyopathy |
circulatory |
24 % |
20479361 |
2011-10-11 |
|
Psychiatric symptom |
nervous |
20 % |
17620490 |
2011-10-10 |
|
Neuropathy |
nervous |
20 % |
17620490 |
2011-10-10 |
|
Dysphagia |
nervous |
12 % |
20479361 |
2011-10-11 |
|
Headache |
nervous |
9 % |
20479361 |
2011-10-11 |
|
Hearing loss |
nervous |
9 % |
20479361 |
2011-10-11 |
|
Cataract |
nervous |
9 % |
20479361 |
2011-10-11 |
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List of references:
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Robert H Baloh, Ezequiel Salavaggione, Jeffrey Milbrandt, Alan Pestronk,
Archives of neurology - Jul 2007
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. C Fratter, G S Gorman, J D Stewart, M Buddles, C Smith, J Evans, A Seller, J Poulton, M Roberts, M G Hanna, S Rahman, S E Omer, T Klopstock, B Schoser, C Kornblum, B Czermin, B Lecky, E L Blakely, K Craig, P F Chinnery, D M Turnbull, R Horvath, R W Taylor,
Neurology - May 2010
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