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

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Description from OMIM

MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).

Prevalence of clinical parameters (%)

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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
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,

The aim of the study was to analyze a series of Brazilian patients suffering from MELAS.

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,

To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation.

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,

The mitochondrial tRNALeu(UUR) A-->G(3243) mutation was identified in 22 unrelated patients. The probands and their relatives were assessed clinically and by quantitative mitochondrial DNA (mtDNA) analysis. While 10 probands had clinical features consistent with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), usually associated with this mutation, 12 probands had other phenotypes including other encephalopathies, chronic progressive external ophthalmoplegia (CPEO), myoclonic epilepsy and ragged red fibres (MERRF), myopathy alone and diabetes and deafness. Histochemical analyses of muscle biopsies showed a higher proportion of cytochrome oxidase (COX) negative fibres, but fewer strongly COX reactive fibres, in patients with CPEO compared with those with MELAS. The proportion of mutant mtDNA present in blood was significantly greater in symptomatic than asymptomatic subjects, and was correlated with age in both. This correlation was not observed in patients with the tRNALys A-->G(8344) mutation. The proportion of mutant mtDNA A-->G(3243) in muscle was always greater than that in blood. Significant correlations between proportion of mutant mtDNA in blood and both age of onset of disease and a clinical severity score were observed. However, the proportion of mutant mtDNA in blood in affected and unaffected cases overlapped, preventing use of the genetic-clinical correlation for prognostic or predictive purposes. The presence of intrafamilial clustering of phenotypes and the imperfect relationship between proportion of mutant mtDNA and the presence or absence of disease suggests that other factors may determine the phenotype. To investigate this possibility further, the tRNALeu(UUR) gene was sequenced in 23 probands and six relatives. In 28 patients the sequence was normal apart from the 3243 mutation, but in members of one family there was a homoplasmic T-->C transition at position 3290 which was not found in 140 controls or 50 other patients with mitochondrial myopathy. The family with this transition had high levels of mutant mtDNA A-->G(3243), with a unique phenotype of predominant skeletal myopathy, suggesting that this second base change in tRNALeu(UUR) may influence the clinical phenotype.

Brain : a journal of neurology - Jun 1995