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the claim

Lafora disease is a fatal autosomal recessive genetic disorder characterized by the presence of Lafora bodies within neurons and the cells of the heart, liver, muscle, and skin.

the verdict
SUPPORTED
the evidence backs this
Recorded sources
4 sources for · 0 against

Counts group repeated records of the same source within each side. They do not measure evidence strength or source independence.

Is it true that Lafora disease is a fatal autosomal recessive genetic disorder characterized by the presence of Lafora bodies within neurons and the cells of the heart, liver, muscle, and skin?

Yes. Lafora disease is a fatal autosomal recessive genetic disorder characterized by the presence of Lafora bodies within neurons and various peripheral tissues due to abnormal glycogen metabolism.

Verdict: SUPPORTED · 4 sources for, 0 against · Last checked

The analysis

The retrieved papers consistently characterize Lafora disease as a fatal autosomal recessive disorder caused by genetic mutations affecting glycogen metabolism, resulting in the characteristic formation of Lafora bodies (polyglucosan bodies) across neural and peripheral tissues.

Evidence for · 4
Lafora disease: Current biology and therapeutic approaches.
2022
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S, M., E, G., & BA, M. (2022). Lafora disease: Current biology and therapeutic approaches.. doi.org. https://doi.org/10.1016/j.neurol.2021.06.006

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More for · 3
Impaired malin expression and interaction with partner proteins in Lafora disease.
2024
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AV, S., DM, S., CJ, C., YC, H., TD, H., AA, D., & PJ, R. (2024). Impaired malin expression and interaction with partner proteins in Lafora disease.. doi.org. https://doi.org/10.1016/j.jbc.2024.107271

Neuromuscular junction dysfunction in Lafora disease.
2024
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M, S., D, C., & S, G. (2024). Neuromuscular junction dysfunction in Lafora disease.. doi.org. https://doi.org/10.1242/dmm.050905

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.
2025
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R, N., F, V., SM, H., & S, S. (2025). Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.. doi.org. https://doi.org/10.1186/s12883-025-04253-x

What does the evidence say?

The retrieved papers consistently characterize Lafora disease as a fatal autosomal recessive disorder caused by genetic mutations affecting glycogen metabolism, resulting in the characteristic formation of Lafora bodies (polyglucosan bodies) across neural and peripheral tissues.

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