Encephalomyopathy

Common Name(s)

Encephalomyopathy

Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. Laboratory studies often show mild methylmalonic aciduria ({1:Carrozzo et al., 2007}). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalomyopathy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Encephalomyopathy" returned 85 free, full-text research articles on human participants. First 3 results:

Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report.
 

Author(s): Toru Yamamoto, Noriko Miyazawa, Shinichi Yamamoto, Hiroshi Kawahara

Journal: Anesth Prog. 2017 ;64(4):235-239.

 

We report on a morbidly obese 16-year-old boy (weight, 116 kg; height, 176 cm; body mass index, 35.5 kg/m) with mitochondrial encephalomyopathy and a history of cerebral infarction, epilepsy, and severe mental retardation. The patient was scheduled for elective surgery under general ...

Last Updated: 31 Dec 1969

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Combined Respiratory Chain Deficiency and Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
 

Author(s): René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr

Journal: Oxid Med Cell Longev. 2017 ;2017():7202589.

 

Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur ...

Last Updated: 31 Dec 1969

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
 

Author(s): Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A Eklund, Vineta Fellman

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Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Encephalomyopathy" returned 8 free, full-text review articles on human participants. First 3 results:

Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature.
 

Author(s): Musthafa Chalikandy Peedikayil, Eje Ingvar Kagevi, Ehab Abufarhaneh, Moeenaldeen Dia Alsayed, Hazzaa Abdulla Alzahrani

Journal: Hematol Oncol Stem Cell Ther. 2015 Jun;8(2):85-90.

 

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase (TP), which in turn increases thymidine and deoxyuridine in the blood, serum, and tissue. The toxic ...

Last Updated: 31 Dec 1969

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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
 

Author(s): Sanna Matilainen, Pirjo Isohanni, Liliya Euro, Tuula Lönnqvist, Helena Pihko, Tero Kivelä, Sakari Knuutila, Anu Suomalainen

Journal: Eur. J. Hum. Genet.. 2015 Mar;23(3):325-30.

 

Mutations in SUCLA2, encoding the ß-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA depletion syndrome. Patients have been reported to have severe progressive childhood-onset encephalomyopathy, and methylmalonic aciduria, often leading to death ...

Last Updated: 31 Dec 1969

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Modeling mitochondrial encephalomyopathy in Drosophila.
 

Author(s): Michael J Palladino

Journal: Neurobiol. Dis.. 2010 Oct;40(1):40-5.

 

Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle. Therapeutic approaches for these diseases remain limited due to a poor understanding of disease pathogenesis resulting largely from ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study
 

Status: Recruiting

Condition Summary: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

 

Last Updated: 25 Jan 2017

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Natural History Study - Mitochondrial Disease
 

Status: Recruiting

Condition Summary: MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier

 

Last Updated: 10 Aug 2016

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The Leigh Syndrome Registry
 

Status: Recruiting

Condition Summary: Leigh Syndrome; Leigh Disease; Leigh's Necrotizing Encephalopathy; Subacute Necrotizing Encephalomyopathy; Subacute Necrotizing Encephalomyelopathy

 

Last Updated: 28 Apr 2017

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