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Encyclopedia > Lafora disease

Lafora disease is a hereditary disease characterised by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle, and skin. The patients develop the first symptoms mainly during adolescence. Major problems are seizure, drop attacks, myoclonus, ataxia, and most importantly a quickly developing, progressive and severe dementia. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... The term symptom (from the Greek syn = con/plus and pipto = fall, together meaning co-exist) has two similar meanings in the context of physical and mental health: A symptom can be a physical condition which shows that one has a particular illness or disorder (see e. ... Adolescence is the transitional stage of development between childhood and full adulthood (gender-specific manhood, or womanhood), representing the period of time during which a person is biologically adult but emotionally not at full maturity. ... This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ... Myoclonus is brief, involuntary twitching of a muscle or a group of muscles. ... Ataxia (from Greek ataxiā, meaning failure to put in order) is unsteady and clumsy motion of the limbs or trunk due to a failure of the fine coordination of muscle movements. ... For other senses of this word, see dementia (disambiguation). ...


This disease is named after Gonzalo Rodriguez Lafora (1887-1971), a Spanish neuropathologist. [1] [2]


Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination. The inclusion bodies (which seem to comprise high levels of carbohydrates) are typically labeled by a specific stain called PAS (Periodic acid-Schiff). Neither the origin of these inclusions nor the exact mechanisms by which they cause the disease are known. Genetic studies have recently disclosed that a gene (named as EPM2A) encoding the protein laforin is strongly associated with the disease. There is no treatment, and the therapy is mainly supportive and symptomatic. Although seizure and myoclonus can be controlled for a long period by using antiepileptic drugs, patients are usually lost within one or two decades due to the devastating effects of dementia and ataxia. Diagnosis (from the Greek words dia = by and gnosis = knowledge) is the process of identifying a disease by its signs, symptoms and results of various diagnostic procedures. ... Diagram of the layers of human skin In zootomy and dermatology, skin is an organ of the integumentary system composed of a layer of tissues that protect underlying muscles and organs. ... The armpit (or axilla) is the area on the human body directly under the area where the arm connects to the shoulder. ... A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ... Carbohydrates are chemical compounds that contain oxygen, hydrogen, and carbon atoms. ... Periodic acid-Schiff (PAS) is a staining method used in histology and pathology. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... Look up Therapy in Wiktionary, the free dictionary Therapy (in Greek: θεραπεία) or treatment is the attempted remediation of a health problem, usually following a diagnosis. ...


  Results from FactBites:
 
Lafora disease - Wikipedia, the free encyclopedia (230 words)
Lafora disease is a hereditary disease characterised by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle, and skin.
Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination.
Genetic studies have recently disclosed that a gene (named as EPM2A) encoding the protein laforin is strongly associated with the disease.
  More results at FactBites »

 
 

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