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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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

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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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.
 

Author(s): Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, Tiziana Langella, Eleonora Lamantea, Barbara Garavaglia, Ettore Salsano, Laura Farina, Isabella Moroni, Davide Pareyson, Daniele Ghezzi

Journal: Neurology. 2015 May;84(21):2193-5.

 

Last Updated: 26 May 2015

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Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
 

Author(s): Elisa Boschetti, Roberto D'Alessandro, Francesca Bianco, Valerio Carelli, Giovanna Cenacchi, Antonio D Pinna, Massimo Del Gaudio, Rita Rinaldi, Vincenzo Stanghellini, Loris Pironi, Kerry Rhoden, Vitaliano Tugnoli, Carlo Casali, Roberto De Giorgio

Journal:

 

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive mitochondrial disease associated with mutations in the nuclear TYMP gene. As a result, the thymidine phosphorylase (TP) enzyme activity is markedly reduced leading to toxic accumulation of ...

Last Updated: 7 May 2014

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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 6 free, full-text review articles on human participants. First 3 results:

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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Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.
 

Author(s): J Halter, W M M Schüpbach, C Casali, R Elhasid, K Fay, S Hammans, I Illa, L Kappeler, S Krähenbühl, T Lehmann, H Mandel, R Marti, H Mattle, K Orchard, D Savage, C M Sue, D Valcarcel, A Gratwohl, M Hirano

Journal: Bone Marrow Transplant.. 2011 Mar;46(3):330-7.

 

Allogeneic hematopoietic SCT (HSCT) has been proposed as a treatment for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). HSCT has been performed in nine patients using different protocols with varying success. Based on this preliminary experience, participants ...

Last Updated: 9 Mar 2011

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Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome.
 

Author(s): Abdallah Fayssoil

Journal: Congest Heart Fail. ;15(6):284-7.

 

Mitochondrial encephalomyopathy, lactic acidosis, and stroke (MELAS) syndrome is a mitochondrial genetic disorder caused by a point mutation, resulting in the substitution of guanine for adenine at nucleotide 3243 (A3243G) of mitochondrial DNA. This disease is characterized by a multisystem ...

Last Updated: 20 Nov 2009

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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) Syndrome

 

Last Updated: 17 Dec 2015

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Natural History Study - Mitochondrial Disease
 

Status: Recruiting

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

 

Last Updated: 21 Dec 2015

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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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