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

Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report.
 

Author(s): Yudan Lv, Nan Zhang, Chang Liu, Mingchao Shi, Li Sun

Journal: Medicine (Baltimore). 2018 Apr;97(15):e0299.

 

Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible ...

Last Updated: 31 Dec 1969

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Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
 

Author(s): Kristin D Kernohan, Laure Frésard, Zachary Zappala, Taila Hartley, Kevin S Smith, Justin Wagner, Hongbin Xu, Arran McBride, Pierre R Bourque, Care Rare Canada Consortium, Steffany A L Bennett, David A Dyment, Kym M Boycott, Stephen B Montgomery, Jodi Warman Chardon

Journal: Hum. Mutat.. 2017 Jun;38(6):611-614.

 

At least 15% of the disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in noncoding regions. Whole-transcriptome sequencing is a promising new tool to identify ...

Last Updated: 31 Dec 1969

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Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
 

Author(s): Emel Oguz Akarsu, Pınar Tekturk, Zuhal Yapici, Fatih Tepgec, Z Oya Uyguner, Betul Baykan

Journal: Seizure. 2016 Nov;42():49-51.

 

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 "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: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.