In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). [ncbi.nlm.nih.gov]

• 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]

• Abnormal Gait

  […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Myoclonus 0001336 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Psychosis 0000709 Rapidly progressive Worsening quickly 0003678 Visual auras 0011165 [rarediseases.info.nih.gov]

• 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]

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 Polyspikes

  EEG is initially normal, and later develops nonspecific generalized polyspike discharges during the awake state. [wiki.med.umich.edu]

  The EEG is characterized by background slowing and generalized polyspikes, which may be more prominent in the posterior head regions. (11,16). [path.upmc.edu]

• 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]

  EEG showed generalized periodic epileptiform discharges recurring at 20-24 s (PLIDDs). [annalsofian.org]

• Visceromegaly

  General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots. Neurological examination revealed bradypsychia and amnestic deficit for recent events. [elsevier.es]

No preventative or curative treatment is currently available for LD and treatment focuses on palliation. [ncbi.nlm.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]

Lamotrigine was noted as an effective treatment for infantile and juvenile neuronal ceroid lipofuscinosis. [statpearls.com]

Treatment The treatment for the disease is chiefly to manage the symptoms. The myoclonus and seizures can be controlled at the beginning of the disease with antiepileptic medications. [myhealthyfeeling.com]

The frequency of anxiety disorders in treatment-resistant epileptic patients who are scheduled for surgical treatment is 10%-44%, whereas the frequency is 11% in primary care among patients with epilepsy (6,7). [dusunenadamdergisi.org]

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]

What is the prognosis for patients with Lafora disease? At this time, the prognosis for persons affected by Lafora disease is, unfortunately, poor. [epilepsy.com]

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

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]

Summary Dementia syndromes are diseases of complex etiology and often a shared clinical picture. That causes great difficulties in the diagnosis. [czytelniamedyczna.pl]

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]

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]

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]

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

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]

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]

Although future experiments are still needed to fully understand how the laforin-malin complexes act to prevent generation and/or accumulation of glycogen with abnormally elongated chains and prevent the formation of the lafora bodies, these two publications [cib.csic.es]