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 86 free, full-text research articles on human participants. First 3 results:

MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy.
 

Author(s): F L Yong, C W Wang, K S Tan

Journal:

 

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal recessive disorder associated with mutations in the thymidine phosphorylase (TYMP) gene. The main objective of this study was to characterize the genetic profiles of the deceased proband's family members ...

Last Updated: 5 Nov 2015

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Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
 

Author(s): Weiwei Li, Wei Zhang, Fang Li, Cailing Wang

Journal:

 

To investigate the mitochondrial mutations in patients suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and maternally inherited diabetes. MELAS was confirmed by muscle biopsy performed from the biceps muscle of the proband. ...

Last Updated: 11 Aug 2015

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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
 

Author(s): Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani

Journal: Am. J. Hum. Genet.. 2015 Jul;97(1):186-93.

 

Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated with multiple mtDNA deletions. The onset is typically in adulthood, and affected subjects can also present with general muscle weakness. The underlying genetic defects ...

Last Updated: 4 Jul 2015

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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: 22 Jun 2015

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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: 12 Feb 2015

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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: 23 Aug 2010

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Symptoms, Diagnosis, and Treatment

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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: 8 Aug 2016

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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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Mitochondrial nt3243 A>G Mutation in Taiwan
 

Status: Recruiting

Condition Summary: MELAS Syndrome; Noninsulin-dependent Diabetes Mellitus With Deafness

 

Last Updated: 13 Apr 2014

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