Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort

Abstract Background Lafora disease (LD) is an ultra-rare, autosomal recessive neurodegenerative disorder characterized by the accumulation of Lafora bodies in the brain, leading to drug-resistant epilepsy, myoclonus, progressive dementia, and cerebellar dysfunction. This retrospective study describe...

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Main Authors: Giuseppe d’Orsi, Maria Teresa Di Claudio, Antonella Liantonio, Paola Imbrici, Cosimo Damiano Altomare, Orazio Palumbo, Pietro Palumbo, Mario Benvenuto, Nicola Gambacorta, Graziano Lolli, DEFEAT-LD study group, Massimo Carella
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lafora disease
Late stage
Status epilepticus
Medical complications
Management
Electroclinical features
Online Access:https://doi.org/10.1186/s13023-025-03976-x
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https://doi.org/10.1186/s13023-025-03976-x

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