Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
MELAS

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Prevalence (%) of clinical parameters based on data from 4 references describing 60 individuals







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 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%)
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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