Learn About Lafora Disease

What is the definition of Lafora Disease?
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. Most cases are caused by changes in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner.
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What are the alternative names for Lafora Disease?
  • Lafora disease
  • EPM2
  • Epilepsy progressive myoclonic 2
  • Lafora body disorder
  • MELF
  • Myoclonic epilepsy of Lafora
Who are the top Lafora Disease Local Doctors?
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What are the latest Lafora Disease Clinical Trials?
Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
Summary: A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for use in future Lafora treatment studies.
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CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
Summary: The objective of the CureDRPLA Global Patient Registry is to establish a longitudinal database of patient-reported data on individuals affected with Dentatorubral-pallidoluysian atrophy (DRPLA) from anywhere in the world.~The CureDRPLA Global Patient Registry will address patient needs by:~Expanding patient engagement by documenting quality of life outcomes.~Providing anonymized data to the DRPLA ...
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Lafora Disease?
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Summary: A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Treatment of COVID-19-induced refractory status epilepticus by tocilizumab.
Summary: Treatment of COVID-19-induced refractory status epilepticus by tocilizumab.
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Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.
Summary: Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.