# name
Diagnosis and Symptomatology of Lafora's Disease

# metadata.dc.description[].value
Treballs Finals de Grau de Farmàcia, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, 2019. Tutor/a: Carme Pelegrí i Gabaldà

# metadata.dc.description.abstract[].value
Lafora disease (LD) is a rare and neurodegenerative illness, which is classified within the
group of progressive myoclonic epilepsies (PMEs) and is initially presented from 6 to 20 years
of age. Today neither a diagnosis prior to the onset nor an effective treatment are available.
The 100% of patients have a fatal end approximately within 10 years after manifestations’
start. The aim of this study is to analyze physiopathological basis of the disease, and the
diagnostic strategies followed nowadays. Also, an informative diptych and an algorithm that
might provide support to diagnosis by non-specialized professionals, have been proposed.
In the present work it has been concluded that LD is an autosomal recessive disease, caused
by dysfunctional mutations in the gene EPM2A or NHLRC1 generally. These codify for the
complex’s proteins Laforin-Malin, whose dysfunction promotes glycogen precipitation into
Lafora Bodies (LBs), the pathogenic cause. This disease is heterogeneous genetically, but
homogeneous phenotypically, although there are pathogenic variants of its progression, as
mild LD and early-onset LD. Its low incidence implies unknowledge between professionals
and a complicated diagnosis, which requires three levels of evidence: clinical manifestations’
presence; electroencephalogram (EEG) and LB’s observation; and finally, genetic
confirmation. Some tests as EEG and axillary skin biopsy might be useful for early diagnosis,
so as to establish a preventive treatment. Summarizing, the lack of experimental samples and
experts difficults the investigation, but we are moving towards effective treatment.

# metadata.dc.rights[].value
cc-by-nc-nd (c) Paula Lugue Gimeno, 2019

# metadata.dc.source[].value
Treballs Finals de Grau (TFG) - Farmàcia

# metadata.dc.title[].value
Diagnosis and Symptomatology of Lafora's Disease