Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Progressive Myoclonus Epilepsy, Lafora Type

Berge Minassian  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Progressive Myoclonus Epilepsy, Lafora Type

Berge Minassian.
Free Books & Documents

Excerpt

Clinical characteristics: Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus occurring in previously healthy individuals. Typical age of onset is eight to 19 years (peak: age14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may also occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early, while spasticity appears late. Emotional disturbances and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to neurologic degeneration.

Diagnosis/testing: The diagnosis of Lafora disease is established in a proband with characteristic neurologic findings and/or biallelic pathogenic variants in one of the two known causative genes, EPM2A or NHLRC1, identified by molecular genetic testing. On rare occasion, a skin biopsy to detect Lafora bodies is necessary to confirm the diagnosis.

Management: Treatment of manifestations: Medical treatment in combination with physical therapy and psychosocial support. Regular evaluation and readjustment are required as the disease progresses. Anti-seizure medications are effective against generalized seizures but do not alter the progression of cognitive and behavioral manifestations. Overmedication in treating drug-resistant myoclonus is a risk. Gastrostomy feedings can decrease the risk of aspiration pneumonia when the disease is advanced.

Surveillance: Clinical and psychosocial evaluations throughout the teenage years. Monitoring of developmental progress and educational needs, in conjunction with behavioral assessments. Continuous assessment of feeding, nutritional status, and airway protection (including aspiration risk).

Agents/circumstances to avoid: Phenytoin as maintenance therapy; possibly lamotrigine, carbamazepine, and oxcarbazepine.

Genetic counseling: Lafora disease is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an EPM2A or NHLRC1 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives, prenatal testing for at-risk pregnancies, and preimplantation genetic testing are possible if the pathogenic variants in the family are known.

PubMed Disclaimer

Similar articles

  • Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Mole SE, Williams RE. Mole SE, et al. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301601 Free Books & Documents. Review.
  • KCNQ3-Related Disorders.
    Miceli F, Soldovieri MV, Weckhuysen S, Cooper EC, Taglialatela M. Miceli F, et al. 2014 May 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 May 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24851285 Free Books & Documents. Review.
  • Pyridoxine-Dependent Epilepsy – ALDH7A1.
    Gospe SM Jr. Gospe SM Jr. 2001 Dec 7 [updated 2022 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Dec 7 [updated 2022 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301659 Free Books & Documents. Review.
  • Adenosine Deaminase Deficiency.
    Hershfield M, Tarrant T. Hershfield M, et al. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301656 Free Books & Documents. Review.
  • Aromatic L-Amino Acid Decarboxylase Deficiency.
    Blau N, Pearson TS, Kurian MA, Elsea SH. Blau N, et al. 2023 Oct 12 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Oct 12 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37824694 Free Books & Documents. Review.
See all similar articles

References

    1. Altindag E, Kara B, Baykan B, Terzibasioglu E, Sencer S, Onat L, Sirvanci M. MR spectroscopy findings in Lafora disease. J Neuroimaging. 2009;19:359–65. - PubMed
    1. Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology. 2003;61:1611–4. - PubMed
    1. Andrade DM, del Campo JM, Moro E, Minassian BA, Wennberg RA. Nonepileptic visual hallucinations in Lafora disease. Neurology. 2005;64:1311–2. - PubMed
    1. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia. 1993;34:S19–30. - PubMed
    1. Canafoglia L, Ciano C, Visani E, Anversa P, Panzica F, Viri M, Gennaro E, Zara F, Madia F, Franceschetti S. Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease. Epilepsy Res. 2010;89:232–7. - PubMed

LinkOut - more resources