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Prevalence (%) of clinical parameters based on data from 4 references describing 60 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 |
Stroke |
nervous |
100 % |
19722047 |
2011-10-18 |
|
Vomiting |
digestive |
100 % |
19722047 |
2011-10-04 |
|
Stroke |
nervous |
100 % |
11708999 |
2011-10-04 |
|
Dementia |
nervous |
100 % |
11708999 |
2011-10-04 |
|
Lactate accumulation |
circulatory |
89 % |
19722047 |
2011-10-04 |
|
Hearing loss |
nervous |
83 % |
11708999 |
2011-10-04 |
|
Seizures |
nervous |
83 % |
11708999 |
2011-10-04 |
|
Headache |
nervous |
80 % |
19722047 |
2011-10-04 |
|
Muscle weakness |
skeletal |
61 % |
7600089 |
2011-10-04 |
|
Seizures |
nervous |
60 % |
19722047 |
2011-10-04 |
|
Muscle weakness |
skeletal |
60 % |
19722047 |
2011-10-04 |
|
Hearing loss |
nervous |
56 % |
7600089 |
2011-10-04 |
|
Dementia |
nervous |
50 % |
19722047 |
2011-10-04 |
|
Ataxia |
nervous |
44 % |
7600089 |
2011-10-04 |
|
Seizures |
nervous |
36 % |
7600089 |
2011-10-04 |
|
Short stature |
skeletal |
36 % |
7600089 |
2011-10-04 |
|
Ophthalmoplegia |
nervous |
33 % |
7600089 |
2011-10-04 |
|
Cardiomyopathy |
circulatory |
33 % |
11708999 |
2011-10-04 |
|
Stroke |
nervous |
31 % |
7600089 |
2011-10-04 |
|
Hearing loss |
nervous |
30 % |
19722047 |
2011-10-04 |
|
Increased blood CK |
circulatory |
25 % |
19722047 |
2011-10-04 |
|
White matter lesions |
nervous |
25 % |
7726067 |
2019-02-07 |
|
Dementia |
nervous |
22 % |
7600089 |
2011-10-04 |
|
Retinitis pigmentosa |
nervous |
22 % |
7600089 |
2011-10-04 |
|
Diabetes mellitus type 2 |
endocrine |
22 % |
7600089 |
2011-10-04 |
|
Short stature |
skeletal |
20 % |
19722047 |
2011-10-04 |
|
Diabetes mellitus type 2 |
endocrine |
17 % |
11708999 |
2011-10-04 |
|
Muscle weakness |
skeletal |
17 % |
11708999 |
2011-10-04 |
|
Ataxia |
nervous |
17 % |
11708999 |
2011-10-04 |
|
Short stature |
skeletal |
17 % |
11708999 |
2011-10-04 |
|
Developmental delay |
nervous |
10 % |
19722047 |
2011-10-04 |
|
Ataxia |
nervous |
10 % |
19722047 |
2011-10-04 |
|
List of references:
MELAS: clinical features, muscle biopsy and molecular genetics. Paulo José Lorenzoni, Rosana H Scola, Cláudia S Kamoi Kay, Raquel C Arndt, Aline A Freund, Isac Bruck, Mara Lúcia S F Santos, Lineu C Werneck,
Arquivos de neuro-psiquiatria - Sep 2009
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. M Deschauer, T Müller, T Wieser, W Schulte-Mattler, M Kornhuber, S Zierz,
Archives of neurology - Nov 2001
The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. S R Hammans, M G Sweeney, M G Hanna, M Brockington, J A Morgan-Hughes, A E Harding,
Brain : a journal of neurology - Jun 1995
MELAS syndrome: imaging and proton MR spectroscopic findings. M Castillo, L Kwock, C Green,
AJNR. American journal of neuroradiology - Feb 1995
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