Encephalomyopathy: Causes & Reasons

Possible Causes for Encephalomyopathy

Combined Oxidative Phosphorylation Defect Type 13

Links: OMIM Long Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes. [umdf.org]

Mitochondrial encephalomyopathies-Fifty years on. Neurology 2013;81:281-91. PubMed Lake NJ, Bird MJ, Isohanni P, Paetau A. [neuropathology-web.org]

PMID: 20362274 Authors Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M Title Severe X-linked mitochondrial encephalomyopathy [genome.jp]

MELAS Syndrome

[…] lactic acidosis and stroke-like episodes Causes - Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes Prevention - Mitochondrial encephalomyopathy lactic [checkorphan.org]

Melas (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is one of a group of heterogeneous yet clinically distinct syndromes ascribed to a defect [ncbi.nlm.nih.gov]

ORPHA:550 Synonym(s): Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes [orpha.net]

Luft Disease

Links: OMIM Long Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes. [umdf.org]

Mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies. [nejm.org]

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. JAMA Neurol 2013;70:1177-1179. Schon EA, DiMauro S, Hirano M. [columbianeurology.org]

Chronic Progressive External Ophthalmoplegia

Article / Publication Details First-Page Preview Abstract We report a short-term double-blind, crossover study of CoQ 10 in 8 patients with mitochondrial encephalomyopathies [karger.com]

[…] analyses confirmed that 18% of muscle mtDNA harbored the mutation, while it was absent from DNA of fibroblasts and lymphocytes of the proband and in 110 patients with other encephalomyopathies [ncbi.nlm.nih.gov]

This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation [ncbi.nlm.nih.gov]

MERRF Syndrome

This observation was consistent with brain MRI abnormalities in patients with mitochondrial encephalomyopathy. [spandidos-publications.com]

Abstract Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome [ncbi.nlm.nih.gov]

Therefore, we propose that the T-->C(8356) transition is responsible for the mitochondrial encephalomyopathy found in our family, and must be added to the expanding list of [ncbi.nlm.nih.gov]

Autosomal Dominant Progressive External Ophthalmoplegia Type 6

Mitochondrial encephalomyopathies: therapeutic approaches. [em-consulte.com]

last updated March 11, 2017; expires March 11, 2020 This article includes discussion of disorders of mitochondrial DNA maintenance, mitochondrial neurogastrointestinal encephalomyopathy [medlink.com]

Neurology (1993) [ Pubmed ] SPECT findings in mitochondrial encephalomyopathy. [wikigenes.org]

[…] external ophtalmoplegia - adPEO) POLG1 POLG2 ANT1 OPA1 mtDNA depletion (hepatocerebral form, myopathic form, encephalomyopathic form, mitochondrial neurogastrointestinal encephalomyopathy [humpath.com]

lactic acidosis; encephalomyopathy with macrocephaly; leukoencephalopathy, Leigh-like syndrome [ 74 – 77 ] Other genes in the mtDNA: MT-TL1; MT-TS2; MT-TW MELAS; Mitochondrial [basicmedicalkey.com]

nephropathy [xcvi] COQ4 612898 CoQ10 deficiency 9q34.13 AR Encephalomyopathy, mental retardation [xcvii] COQ5 616359 CoQ10 deficiency 12q24.31 AR Encephalomyopathy, cerebellar [mitomap.org]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

A comparativemorphological study in 33 cases of respiratory chain encephalomyopathies. Acta Myolog 2003 ; 22 : 48 – 52. 17. [cambridge.org]

Encephalomyopathy MELAS MTTL1 MELAS T3291C tRNA Leu (UUR) - + Rep ( 126, 139 ) Encephalomyopathy MELAS MTTV MELAS G1642A tRNA Val - + Rep ( 86 ) Encephalomyopathy MELAS [mitomap.org]

2156 KeywordsBase Sequence; Cytochrome-c Oxidase Deficiency; Diagnosis, Differential; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Mitochondria; Mitochondrial Encephalomyopathies [nemoursresearch.org]

Lethal Infantile Mitochondrial Myopathy

Due to the considerable phenotypic diversity of the RC encephalomyopathies, they are included in the differential diagnosis of many cases of multisystem disease. [karger.com]

“AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.” [dash.harvard.edu]

[…] clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy [ncbi.nlm.nih.gov]

Mitochondrial DNA Depletion Syndrome

[…] a deleterious mutation in SUCLA2, the gene encoding the beta subunit of the ADP-forming succinyl-CoA synthetase ligase, was found in muscle mitochondria of patients with encephalomyopathy [ncbi.nlm.nih.gov]

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130:862–874. [dx.doi.org]

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep 2007;27:151–163. [dx.doi.org]

Mitochondrial Myopathy

Abstract We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [ncbi.nlm.nih.gov]

Mitochondrial encephalomyopathies: therapeutic approaches. [em-consulte.com]

Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic [ninds.nih.gov]

Isolated Complex I Deficiency

[…] lactic acidosis (n = 3), neonatal cardiomyopathy with lactic acidosis (n = 3), macrocephaly with progressive leukodystrophy (n = 2), and a residual group of unspecified encephalomyopathy [ncbi.nlm.nih.gov]

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J. Med. [push-zb.helmholtz-muenchen.de]

Links: OMIM Long Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes. [umdf.org]

Mitochondrial Complex 3 Deficiency Nuclear Type 1

Key words: Coenzyme Ql0, mitochondrial encephalomyopathy, mitochondrial respiratory chain, electron transport system, coenzyme Q~0 therapy. [docslide.com.br]

Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromusc Disord, 1:443-7, 1991. [periodicos.unifesp.br]

Muscle coenzyme Q 10 deficiency in familial mitochondrial encephalomyopathy. [clinchem.aaccjnls.org]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

[…] heteroplasmic Maternally inherited Goto et al, Nature :651 21 MELAS mutation, trna Leu A3243G Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes C [docplayer.net]

Therefore, mitochondrial encephalomyopathies can be caused by mutations in either genome. [nejm.org]

Isolated Succinate-CoQ Reductase Deficiency

[…] phosphorylation disorder due to nuclear DNA anomalies NARP syndrome Oxoglutaricaciduria Pearson syndrome Pyruvate dehydrogenase deficiency Severe X-linked mitochondrial encephalomyopathy [se-atlas.de]

[…] association with dilated cardiomyopathy (and heart failure in childhood), [4] hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy [rarediseases.info.nih.gov]

[…] of other phenotypes have been reported, including Leigh disease ( Martin et al 1988 ; Burgeois et al 1992 ), leukodystrophy ( Alsto et al 2012 ; Ohlenbusch et al 2012 ), encephalomyopathy [medlink.com]

Mitochondrial Neurogastrointestinal Encephalomyopathy

We identified 102 patients (50 females) with mitochondrial neurogastrointestinal encephalomyopathy and an average age of 32.4 years (range 11-59 years). [ncbi.nlm.nih.gov]

Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. [ncbi.nlm.nih.gov]

The first defect of intergenomic communication to be molecularly defined, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), is caused by mutations in nuclear [doi.org]

Kearns-Sayre Syndrome

A pacemaker was implanted into a 17-year-old man with cardiac failure due to complete atrioventricular block complicated by mitochondrial encephalomyopathy (Kearns-Sayre syndrome [ncbi.nlm.nih.gov]

Kearns-Sayre syndrome is one of the mitochondrial encephalomyopathies. [rxlist.com]

[…] segregation of mitochondrial DNA (mtDNA) can produce large differences in the proportions of wild-type and mutant mtDNAs in different cell types of patients with mitochondrial encephalomyopathy [ncbi.nlm.nih.gov]

Mitochondrial Disease

Methods: The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8 [ncbi.nlm.nih.gov]

Mitochondrial diseases, or encephalomyopathies, are an uncommon, heterogeneous group of disorders with variable clinical course and presentation. [ncbi.nlm.nih.gov]

Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), one with a phenotype in the Myoclonic [ncbi.nlm.nih.gov]

Lactic Acidosis

IMPORTANCE: Stroke-like episodes signal progression and significant disability in the mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome. [ncbi.nlm.nih.gov]

BACKGROUND: Epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic [ncbi.nlm.nih.gov]

After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis [ncbi.nlm.nih.gov]

Alpers Syndrome

Skeletal muscle did not contain ragged red fibers, nor were there mitochondrial DNA point mutations characteristic for mitochondrial encephalomyopathy, lactic acidosis, and [ncbi.nlm.nih.gov]

METHODS: Patients with the phenotype of Alpers syndrome who were referred to our pediatric hospital during 1984-2007 and were diagnosed with mitochondrial encephalomyopathy [ncbi.nlm.nih.gov]

METHODS Patients with the phenotype of Alpers syndrome who were referred to our pediatric hospital during 1984-2007 and were diagnosed with mitochondrial encephalomyopathy [unboundmedicine.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS Is also known as melas syndrome;mitochondrial encephalomyopathy, lactic acidosis and [mendelian.co]

[…] edit ] Mitochondrial cytopathy (generic term) Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial disease Mitochondrial encephalomyopathy [en.wikipedia.org]

Mis-Mix Mitochondrial cytopathy (generic term) Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial Diseases Mitochondrial encephalomyopathy [thefullwiki.org]

Melhem-Fahl Syndrome

Mitochondrial PEPCK deficiency Mitochondrial cytopathy (generic term) Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial encephalomyopathy [mindmappedia.com]

Misophobia Mitochondrial cytopathy (generic term) Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial Diseases Mitochondrial encephalomyopathy [bioreference.net]

Familial Visceral Myopathy

Mitochondrial encephalomyopathies: therapeutic approaches. [em-consulte.com]

APR 1999; 116 (4) : 959-963 PerezAtayde-AR; Fox-V; Teitelbaum-JE; Anthony-DA; Fadic-R; Kalsner-L; Rivkin-M; Johns-DR; Cox-GF Mitochondrial neurogastrointestinal encephalomyopathy [malattierare.regione.veneto.it]

Cytochrome c oxidase deficiency in two siblings with Leigh encephalomyopathy. Brain Dev 1984; 6: 362-72. [ Links ] 21. [scielo.isciii.es]

Lethal Ataxia with Deafness and Optic Atrophy

[…] myopathy and Ophthalmoplegia (CIPO), Maternally inherited Deafness, aminoglycoside-induced Deafness, Progressive encephalopathy (PEM), SensoriNeural Hearing Loss (SNHL), Encephalomyopathy [brevets-patents.ic.gc.ca]

Mutations in nuclear genes encoding assembly factors for complex V cause severe infantile encephalomyopathies with lactic acidosis and early death. [rarediseasesnetwork.org]

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013;93:482–95. [link.springer.com]

Leigh's Disease

Leigh's disease is one of the mitochondrial encephalomyopathies. [ncbi.nlm.nih.gov]

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. [eyewiki.aao.org]

Links: OMIM Long Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes. [umdf.org]

Mononen-Karnes-Senac Syndrome

289560 Mitochondrial membrane protein-associated neurodegeneration 0.1 P 2598 Mitochondrial myopathy and sideroblastic anemia 7 Cases 298 Mitochondrial neurogastrointestinal encephalomyopathy [azkurs.org]

Glycogen Storage Disease Type 10

DiMauro S (2000) Introduction: mitochondrial encephalomyopathies. Brain Pathol 10: 419–421 PubMed Google Scholar 27. DiMauro S (1992) Mitochondrial encephalomyopathies. [link.springer.com]

encephalomyopathy). [what-when-how.com]

E Encephalomyopathy with Renal Tubulopathy Encephalomyopathy with Methylmalonic Aciduria Enterocyte Intrinsic Factor Receptor Deficiency Erythropoietic Protoporphyria EPP [climb.org.uk]

Progressive Myoclonic Epilepsy Type 3

ataxia, myoclonus, and deafness 590105 MITO Mitochondrial Genome sequence panel MT-TW Encephalomyopathy, Mitochondrial Myopathy 590095 MITO Mitochondrial Genome sequence [lhsc.on.ca]

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA. [connection.ebscohost.com]

PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF). [genome.jp]

Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

NDUFV1 ; C6ORF66 ; NUBPL Hepatomegaly with renal tubulopathy Lethal neonatal: NDUFAF3 ; NDUFS6 ; NDUFAF5 Cardiomyopathy + Encephalomyopathy: NDUFS2 ; NDUFV2 ; NDUFAF1 Childhood [neuromuscular.wustl.edu]

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE). Gastroenterol Clin Biol 2005;29:773-778. [bcmj.org]

[…] mutated ACAD9, to increase complex 1 activity in fibroblasts from patients with ACAD9 deficiency, and to alleviate symptoms in children with ACAD9 associated progressive encephalomyopathy [journals.plos.org]

Hereditary Proximal Myopathy with Early Respiratory Failure

[…] syndrome Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy, [orpha.net]

Sembrano E, Barthlen GM, Wallace S, Lamm C (1997) Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. [link.springer.com]

Mitochondrial Myopathy Myoclonic epilepsy and ragged red fibers (MERRF) Mitochondrial myopathy, lactic acidosis, and strokes (MELAS) Mitochondrial neurogastrointestinal encephalomyopathy [clevelandclinicmeded.com]