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

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
 

Author(s): Xiaowu Gai, Daniele Ghezzi, Mark A Johnson, Caroline A Biagosch, Hanan E Shamseldin, Tobias B Haack, Aurelio Reyes, Mai Tsukikawa, Claire A Sheldon, Satish Srinivasan, Matteo Gorza, Laura S Kremer, Thomas Wieland, Tim M Strom, Erzsebet Polyak, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A Salih, Emtethal Al-Jishi, Christopher P Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S Alkuraya, Marni J Falk, Massimo Zeviani

Journal: Am. J. Hum. Genet.. 2013 Sep;93(3):482-95.

 

Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed ...

Last Updated: 9 Sep 2013

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Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
 

Author(s): Caterina Garone, Maria Alice Donati, Michele Sacchini, Beatriz Garcia-Diaz, Claudio Bruno, Sarah Calvo, Vamsi K Mootha, Salvatore Dimauro

Journal: JAMA Neurol. 2013 Sep;70(9):1177-9.

 

Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of "MitoExome" sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed ...

Last Updated: 13 Sep 2013

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Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients.
 

Author(s): Gökçen Çoban, Savaş Göktürk, Erkan Yildirim, Zuhal Çalışkan, Bahriye Horasanli, Hatice Aysun Akça

Journal: Diagn Interv Radiol. ;19(3):191-4.

 

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. We aimed to raise awareness in radiologists regarding ...

Last Updated: 1 May 2013

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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 5 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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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
 

Author(s): M C Lara, M L Valentino, J Torres-Torronteras, M Hirano, R Martí

Journal: Biosci. Rep.. 2007 Jun;27(1-3):151-63.

 

Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this disorder and the seminal determination ...

Last Updated: 14 Jun 2007

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Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
 

Author(s): Hugues Blondon, Marc Polivka, Francisca Joly, Bernard Flourie, Jacqueline Mikol, Bernard Messing

Journal: Gastroenterol. Clin. Biol.. ;29(8-9):773-8.

 

We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. ...

Last Updated: 18 Nov 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study - Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Mitochondrial DNA Mutation

 

Last Updated: 29 Jul 2013

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Nitric Oxide Production in MELAS Syndrome
 

Status: Recruiting

Condition Summary: MELAS Syndrome

 

Last Updated: 19 Apr 2011

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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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