Progressive myoclonic epilepsy

Common Name(s)

Progressive myoclonic epilepsy

Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy.  Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Progressive myoclonic epilepsy" 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 "Progressive myoclonic epilepsy" returned 17 free, full-text research articles on human participants. First 3 results:

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
 

Author(s): Guido Rubboli, Pierangelo Veggiotti, Antonella Pini, Angela Berardinelli, Gaetano Cantalupo, Enrico Bertini, Francesco Danilo Tiziano, Adele D'Amico, Elena Piazza, Emanuela Abiusi, Stefania Fiori, Elena Pasini, Francesca Darra, Giuseppe Gobbi, Roberto Michelucci

Journal: Epilepsia. 2015 May;56(5):692-8.

 

To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.

Last Updated: 18 May 2015

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Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.
 

Author(s): Anna A DePaoli-Roach, Christopher J Contreras, Dyann M Segvich, Christian Heiss, Mayumi Ishihara, Parastoo Azadi, Peter J Roach

Journal: J. Biol. Chem.. 2015 Jan;290(2):841-50.

 

Glycogen is a branched polymer of glucose that acts as an energy reserve in many cell types. Glycogen contains trace amounts of covalent phosphate, in the range of 1 phosphate per 500-2000 glucose residues depending on the source. The function, if any, is unknown, but in at least ...

Last Updated: 10 Jan 2015

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3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.
 

Author(s): Sanna Suoranta, Kirsi Holli-Helenius, Päivi Koskenkorva, Eini Niskanen, Mervi Könönen, Marja Äikiä, Hannu Eskola, Reetta Kälviäinen, Ritva Vanninen

Journal:

 

Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. At the time of diagnosis, the visual assessment of the brain MRI is usually normal, with no ...

Last Updated: 7 Aug 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 "Progressive myoclonic epilepsy" returned 2 free, full-text review articles on human participants. First 3 results:

Progressive myoclonic epilepsy.
 

Author(s): P Satishchandra, S Sinha

Journal: Neurol India. ;58(4):514-22.

 

Progressive myoclonic epilepsy (PME) is a disease complex and is characterized by the development of relentlessly progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. It encompasses different diagnostic entities and the common causes include Lafora body ...

Last Updated: 26 Aug 2010

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Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy.
 

Author(s): W Donald Shields

Journal: Epilepsia. 2004 ;45 Suppl 5():2-4.

 

The epilepsies of childhood are distinguished by an interesting dichotomy between the benign and catastrophic disorders. Approximately 50% of children outgrow childhood epilepsy as they mature; although the disorder is disruptive for children and families alike, it is not considered ...

Last Updated: 30 Jul 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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