Abstract Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. [ncbi.nlm.nih.gov]

• Wheelchair Bound

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

• Generalized Seizure

  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]

• Drop Attacks

  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]

• Abnormal Gait

  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]

• Alteration of Consciousness

  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]

• Gait Ataxia

  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]

• Onset in Late Childhood or Adolescence

  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]

Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. [ncbi.nlm.nih.gov]

The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. [cureus.com]

• Generalized Epileptiform Discharges

  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]

Several therapeutic options for Lafora disease patients are currently being explored, and these therapies would benefit from a biochemical means of assessing functional laforin activity following treatment. [ncbi.nlm.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

TREATMENT The primary focus of treatment is medication management for seizure control. Unfortunately, the disease is fatal and there is no specific treatment to "cure" the disorder. [thefreelibrary.com]

Abstract Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. [ncbi.nlm.nih.gov]

Lafora's disease An AR neurometabolic disorder characterized by progressive myoclonus epilepsy and mental deterioration beginning in adolescence, ending in dementia Management Seizure control Prognosis Poor; death within 10 yrs of onset Lafora's disease [medical-dictionary.thefreedictionary.com]

Diagnosis - Lafora disease Prognosis - Lafora disease Not supplied. Treatment - Lafora disease There is no treatment, and therapy is mainly supportive and symptomatic. [checkorphan.org]

Drugs that are known to worsen myoclonus (i.e. phenytoin) should be avoided.[2][3] Last updated: 9/28/2015 The long-term outlook (prognosis ) for people with Lafora disease is unfortunately poor. [rarediseases.info.nih.gov]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

Metabolic etiologies: mitochondrial disorders (MERRF), neuronal ceroid lipofuscinosis, sialidosis. [epilepsydiagnosis.org]

The etiology of Lafora disease and progression of the disorder are described. Implications for treatment of the disorder and palliative care are briefly discussed. [thefreelibrary.com]

The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. [cureus.com]

However, the mechanism explaining laforin's role in the molecular etiology of LD is unknown. Fig. 1. A schematic of laforin and malin. [pnas.org]

DISCUSSION: We described several novel mutations of EPM2A and NHLRC1 and brought additional data to the genetic epidemiology of LD. [ncbi.nlm.nih.gov]

Cerebellar ataxia and/or involuntary movements Epidemiology Transmitted in an autosomal recessive fashion. Onset is in late childhood to adolescence (age 11 to 18 with a mean age of 14). [wiki.med.umich.edu]

Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Lafora disease: epidemiology, pathophysiology and management. CNS Drugs 2010; 24:549-561. [dusunenadamdergisi.org]

The idea that mental illnesses could be uniformly formulated across the globe gained ground, thanks to epidemiological data and the “medicalization of psychiatry” movement, 48 among other reasons. [scielo.br]

With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies. [ncbi.nlm.nih.gov]

Pathophysiology A mutation in the EPM2A gene is the culprit in a majority of cases (80%). This gene encodes laforin, which is a tyrosine kinase inhibitor that plays a significant role in the regulation of glycogen metabolism. [wiki.med.umich.edu]

However, pathophysiology of this serious disorder warrants meticulous research in future. The diagnosis can be established by the detection of intra-cytoplasmic basophilic inclusions also called LBs. [cureus.com]

We described for the first time the pathophysiological role of p75NTR in Lafora disease; we showed an increase in the ICD-p75NTR levels. [doi.org]

Furthermore, these data distinguish malin as an E3 Ub ligase whose activity is necessary to prevent a neurodegenerative disease that involves formation of nonproteinacious inclusion bodies. [ncbi.nlm.nih.gov]

Animal studies have shown that reducing the production of glycogen in neurons can prevent the disorder. Valerion’s goal is to enzymatically degrade neuronal glycogen, preventing its aggregation and rescuing the neurons from degeneration. [valerion.com]