Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical. Rev. biol. trop [online]. , vol, n, pp. ISSN Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations. La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos.

Author: Kigarr Malalkis
Country: Ecuador
Language: English (Spanish)
Genre: Literature
Published (Last): 19 January 2016
Pages: 368
PDF File Size: 10.50 Mb
ePub File Size: 11.11 Mb
ISBN: 597-8-83249-565-9
Downloads: 12825
Price: Free* [*Free Regsitration Required]
Uploader: Kizuru

N Engl J Med,pp.

To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Previous article Next article. Letter to the Editor. Analytical tests, including a haemogram, renal, liver, and thyroid profiles, copper, ceruloplasmin, creatine kinase, antineuronal antibodies, and baseline and post-exercise lactate levels, all yielded normal results.

Macular degeneration and visual impairment except in the adult form. Epilepsia, 31pp. Are you a health professional able to prescribe or dispense drugs?

HONselect – Lafora Disease

Doctors also observed declining academic performance with multiple cognitive deficits mainly affecting visuospatial and literacy abilities. Oligosaccharide deficiency in urine and neuraminidase deficiency in fibroblasts.

The patient presented dnfermedad ataxia, tremor in both hands that could be increased voluntarily, dysarthria, and bilateral dysmetria finger-to-nose test. Subsequently, the baseline record becomes slower and more disorganised.

  GENESA GABRO PDF

The basophilic intermyofibrillar network was increased by multiples fibres forming small round basophilic deposits, which were PAS-positive according to enzymatic oxidation methods.

Epileptic activity did not increase during stages of drowsiness. A novel protein enfedmedad phosphatase gene is mutated in progressive mioclonus epilepsy of the Lafora type EMP2. We present the case of a year-old male whose gestation and birth were uneventful. Their parents were not consanguineous, although enfrrmedad were from the same village of some inhabitants.

Lafora disease is clinically characterised by generalised tonic-clonic seizures, myoclonias, progressive mental decline, and pyramidal, extrapyramidal, and cerebellar signs. Results from the lysosomal enzyme study were also unremarkable. They are characterised by different types of epileptic seizures mainly myoclonicintellectual impairment, and other clinical manifestations mainly involving the cerebellum.

The patient presented truncal ataxia, tremor in both hands that could be increased voluntarily, dysarthria, and bilateral dysmetria finger-to-nose test.

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Rev Neurol, 25pp. The basophilic intermyofibrillar network was increased by multiples fibres forming small round basophilic deposits, which were PAS-positive according to enzymatic oxidation methods. Intermittent light stimulation generated a photoparoxysmal response at low frequencies.

Gradual cerebellar changes; maculopathy with cherry-red spot. Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos

Their parents were not consanguineous, although both were from the same village of some inhabitants. Differential diagnosis of progressive myoclonic epilepsies. There were no relevant changes in the motor system or in sensitivity.

  LM231 DATASHEET PDF

The Journal accepts works on basic as well applied research on any field of neurology. Striated muscle biopsy revealed no structural changes; fibre diameters were moderately variable. He presented bladder and bowel incontinence and tetraparesis, and became confined to bed and armchair.

Orphanet: Enfermedad de Lafora

In conclusion, doctors should assign a suspected diagnosis of Lafora disease when a young efnermedad in late childhood or adolescence begins experiencing myoclonias followed by ataxia and progressive cognitive decline with no evidence of structural changes in neuroimaging tests and no metabolic changes in the analytical study.

SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

General physical examination revealed no cutaneous stigmata phacomatosisvisceromegalies, or retinal cherry-red spots. The onset of myoclonias coincides with progressive deterioration of cortical function and ataxia. CNS Drugs, 24pp. Please cite this article as: