Over the following years, she became increasingly ataxic, lost bladder control, became mute by age 12 and wheelchair-bound by age 14. [doi.org]

From Wikidata Jump to navigation Jump to search Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive [wikidata.org]

She developed normally until the age of 15, when she had her first occipital and generalized seizures. Four years after the first seizure the patient became bedridden, demented and presented with severe clinical condition. [ncbi.nlm.nih.gov]

Homepage Rare diseases Search Search for a rare disease Lafora disease Disease definition Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial [orpha.net]

Major problems include seizures, drop attacks, myoclonus, ataxia, and, most significantly, a quickly-developing and severe dementia. [checkorphan.org]

LD initially manifests during adolescence (usually between 10 and 17 years) with generalized tonic–clonic seizures, absences, drop attacks or partial visual seizures. [hmg.oxfordjournals.org]

Finally, the progressive myoclonus epilepsy caused by GOSR2 mutation also begins in early childhood but is distinguished by the presence of drop attacks, the absence of cognitive problems till age 25 and scoliosis ( Corbett et al., 2011 ). [doi.org]

The mice did have neurological symptoms, including abnormal excessive scratching behaviour of neurological origin and in some an abnormal gait ( Ross et al., 2012 ). [doi.org]

The myoclonus becomes extremely frequent and is associated with alteration of consciousness interfering with every thought, resulting in frustration, itself worsening the myoclonus. [doi.org]

He developed dysarthria, myoclonus and gait ataxia since primary school, and a generalized seizure at age 13. He reached secondary school but failed his GCSE (General Certificate of Secondary Education). [doi.org]

It is an autosomal-recessive disorder with onset in late childhood or adolescence. Characteristic seizures include myoclonic and occipital lobe seizures with visual hallucinations, scotomata, and photoconvulsions. [ncbi.nlm.nih.gov]

Keywords BDNF Cerebral cortex GABAergic neurons Lafora disease Laforin Neurotrophin NGF p75NTR Background Lafora disease (OMIM 254780) is an autosomal recessive form of epilepsy with onset in late childhood or adolescence [ 1 – 3 ]. [doi.org]

Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG). [ncbi.nlm.nih.gov]

Periodic EEG changes are commonly seen in critical patients.[4] They are usually classified as periodic lateralized epileptiform discharges (PLEDs), bilateral independent PLEDs or BIPLEDs, generalized epileptiform discharges (GPEDs), and triphasic waves [annalsofian.org]