In view of the fact that the literature has not been reviewed in English and clinical observations are rare, the present study was undertaken. [jamanetwork.com]

Insensitivity to pain and areflexia are also present. (12 Dec 1998) [kmle.co.kr]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

This book presents a brief survey on the bacteriology and parasitology of the eye. Organized into three parts encompassing 20 chapters, this book begins with an overview of the normal histology of the eye. [books.google.com]

• Epilepsy

  Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. [books.google.it]

  Bogaert Boston brain career century cerebral palsy Charcot child neurology childhood chorea Clark Clinical Neurology congenital contributions convulsions Crothers Cushing Dejerine described developmental diagnosis Diseases of Children Duchenne early epilepsy [books.google.com]

  Of further interest, was the high instance of dementia praecox, mental deficiency and epilepsy among the brothers and sisters of these patients. The monograph is interesting and well worth reading. A very extensive bibliography is also included. [vdocuments.mx]

  Homocystinuria Hydrancephaly Hydrocephalus Hypertrophic Intersitial Neuritis (Dejerine-Sottas Disease) Hypoglossia-Hypodactylia Spectrum Hypothyroidism (Untreated), Congenital Hypotonia, Congenital, NonBenign Form I Ichthyosis Congenita Infantile Spasms, Epilepsy [anybabycan.org]

  English The use of claim 1, wherein said disease is selected from the group consisting of Huntington's chorea, cerebrocerebellar degeneration, amaurotic family idiocy (neuronal lipidoses), leukodystrophy, familial myoclonus epilepsy, and Wilson's disease [mymemory.translated.net]

• Swelling

  Over months, however, the accumulating GM2 ganglioside causes the neurons to swell. [visionlearning.com]

  Later in severe hypertensive encephalopathy observed retinopathy, in which the phenomena described above to join swelling, degenerative changes and hemorrhages in the retina and optic nerve neuropathy. [minclinic.ru]

  The most important change is probably lipoid infiltration with swelling and loss of Nissl substance in the nerve cells and in the ganglion cells of the retina. [dokumen.tips]

  Diseases associated with accumulation of storage material (such as glycolipids or sphingolipids) in the retinal cellular layers result in swelling and loss of transparency of the multilayered ganglion cells giving it a "white" appearance. [bioline.org.br]

• Crying

  Cerebral Palsy Cerebrocostomandibular Syndrome Cerebrohepatorenal Syndrome CHARGE Syndrome Chondrodysplasia Punctata Syndromes Chromosomal Anomalies 10p+, 10q+, 11p-, 12p-, 13q-, 13q+, 18q-, 21q-, 22q-, 3q+, 4p-, 4p+, 4q-, 4Q+, 5p- (CriDu Chat or Cat’s Cry [anybabycan.org]

  For instance, in a 5-year-old boy aware of his reduced vision, confrontation with colours which he was no longer able to see, caused him to cry, and the examination had to be broken off. Certain examinations could be carried out on other patients. [docslide.net]

• Fever

  At the age of five, Sachs's twin, Harry, died of scarlet fever. After Harry died, Sachs's father relocated the family to Germany in 1867. Sachs's father died two years later. [embryo.asu.edu]

  Acute Labyrinthine Vertigo Acute Lung Injury Acute Malaria Acute multifocal placoid pigment epitheliopathy Acute placoid pigment epitheliopathy Acute Prostatitis (NIH Category I) Acute Renal Failure Acute Respiratory Distress Syndrome Acute Rheumatic Fever [healthmedicinet.com]

• Atrial Septal Defect

  Atrial Septal Defects atriodigital dysplasia Atrioseptal Defects Atrioventricular (AV) Block Atrioventricular Canal Defects Atrioventricular Septal Defect Atrophia Bulborum Hereditaria Atrophy of Type I Fibers Attention Deficit Disorder Attention Deficit [healthmedicinet.com]

• Anosmia

  Anodontia Vera Anorectal Malformations Anorexia Complications Anorexia Nervosa Anorexia Nervosa Anorexia: Help for Family Members Anorexia: Learning New Eating Behaviours Anorexia: Learning to Trust Others Anorexia: Other Health Problems That May Occur Anosmia [healthmedicinet.com]

• Jaundice

  Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). [kmle.co.kr]

  Icterus Icterus: Jaundice. more detail info... ICU ICU: Intensive Care Unit. more detail info... [medicineonline.com]

  A familial crisis in congenital acholuric jaundice. Arch Dis Child. 1952 Feb; 27 (131):34–36. [ PMC free article ] [ PubMed ] [ Google Scholar ] JACKSON ADM, LAWLER SD. [ncbi.nlm.nih.gov]

  Acholuric Jaundice Achondrogenesis Achondroplasia Achondroplastic Dwarfism Acid Burns Acid Ceramidase Deficiency acid cholesteryl ester hydrolase deficiency, type 2 Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type Acid Maltase Deficiency Acidemia [healthmedicinet.com]

• Fear

  However, because he was an avid reader of thrillers, he lived the latter part of his life in constant fear of losing his eyesight. The unassuming Tay remained a bachelor, living in a modest house at Finsbury Square. [mrcophth.com]

• Stroke

  NIH: National Institute of Neurological Disorders and Stroke Tay-Sachs disease [ Read More ] [icdlist.com]

  NIH: National Institute of Neurological Disorders and Stroke Definition (NCI) A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. [fpnotebook.com]

  […] for Alcohol Withdrawal Antianxiety Medicines for Irritable Bowel Syndrome Antibiotic Sensitivity Test Antibiotic-Induced Proctitis Antibiotics for an Ear Infection, Deciding About Antibiotics, Using Wisely Antibody Tests for Lupus Anticoagulants for Stroke [healthmedicinet.com]

  He correctly believed the diseases were caused by a recessive gene in the children was causing an enzyme deficiency. image © Cburnett The role of enzymes and inborn errors of metabolism It was an amazing stroke of insight, for Garrod was correct. [visionlearning.com]

• Confusion

  The implications of these findings will be discussed.The terminology of this condition is confused, and the nosologic position of its various forms is conjectural. [nejm.org]

  The patient had experienced difficulties in colour discrimination, especially red and dark were confused. She also confused bright green and yellow as well as blue and purple. [docslide.net]

  In lymphatic leuka- emia and infectious mononucleisis (15) the typical blood findings apart from vacuolized lymphocytes should exclude confusion. Vacuolized lymphocytes may also be found in malignant lymphogranulomatosis. [dokumen.tips]

  The confusing multiplicity of names points up the urgent need for a standardized system of ganglioside designation. Without prejudging the merits of any one system, we shall use Svennerholm's designations. [kundoc.com]

• Irritability

  Signs and symptoms of this disease includes: deafness, decreased eye contact, loss of muscle strength, delays of mental and social skills, progressive loss of cognitive and intellectual function (dementia), increased startle reaction, irritability, listlessness [secure.ssa.gov]

  Antidiarrheal Medicines for Inflammatory Bowel Disease Antidiarrheals for Irritable Bowel Syndrome Antihemophilic Factor Deficiency Antihemophilic Globulin Deficiency Antihistamines Antihistamines for Morning Sickness Antihistamines for Severe Allergic [healthmedicinet.com]

• Incontinence

  Recovery Abrasions Abruptio Placenta Abruptio Placenta ABS ABS Abscessed Tooth Absence Defect of Limbs, Scalp and Skull Absence of Corpus Callosum, Schinzel Type Absence of Menstruation, Primary absent/hypoplastic fingers Absorbent Products for Urinary Incontinence [healthmedicinet.com]

Treatment of the optic nerve and retina diseases Treatment options for diseases of the optic nerve and retina is chosen individually in each case. [minclinic.ru]

Acne: Treatment With Alpha Hydroxy Acids Acne: Treatment With Antibiotics Acne: Treatment With Benzoyl Peroxide Acne: Treatment With Salicylic Acid Acosta's Disease Acoustic Neurilemoma acoustic neurinoma Acoustic Neuroma ACPS II ACPS III ACPS IV ACPS [healthmedicinet.com]

ICD- 9 : 330.1 TREATMENT There is currently no known cure or treatment for TSD. Medical management of children with TSD is planned on a case-by-case basis and depends on the individual circumstances of the patient. [secure.ssa.gov]

Treatment includes splenectomy (removal of the spleen). [kmle.co.kr]

In this article, the authors discuss approaches to the diagnosis and treatment of GM2 gangliosidosis. Different phenotypes require special diagnostic approaches. Different phenotypes require special diagnostic approaches. [medlink.com]

On investigation of the reported cases, they found that neither consanguinity nor syphilitic, alcoholic, or nervous antecedents in the family history are factors in the etiology of the disease. [en.wikipedia.org]

[…] in 1859. [6] Fluorescein angiography shows filling of the choroid and ciliary branches perfusing the optic nerve head, while displaying delayed retinal arterial filling and prolongation of the arteriovenous circulation time. [7] One can determine the etiology [bioline.org.br]

Some epidemiologic and genetic aspects of Tay-Sachs disease. In : Cerebral Sphingolipidoses : A Symposium on Tay. Sachs Disease and Allied Disorders, p. 359. Ed. ited by Aronson, S. M. and Volk, B. W. New York, 1962. Academic Press, Inc. 147. [kundoc.com]

W, Infantile amaurotic family idiocy (occurrence, genetic considerations and pathophysiology in the non-Jewish infant). Pediatrics, 26 : 229, 1960. 146. MYRIANrHOPOULos, N. C. Some epidemiologic and genetic aspects of Tay-Sachs disease. [kundoc.com]

Myopathy NMSIDS Near-miss Sudden Infant Death Syndrome ISKDC International Study Of Kidney Diseases In Childhood JAI Java Advanced Imaging; Juvenile Amaurotic Idiocy JOAG Juvenile Open-angle Glaucoma IS Infantile Spasms CHDP Child Health And Disability Prevention [medicabbreviations.com]

Can It Be Prevented? You can have a blood test that analyzes your genes or the levels of the Hex-A protein in your blood to tell you whether you are a carrier. [webmd.com]

No preventive measures have as yet been discovered, and no treatment has been of benefit, all the cases having terminated fatally. [en.wikipedia.org]

• Carrier detection in risk populations is successful in prevention. [medlink.com]

Alcohol Withdrawal Antianxiety Medicines for Irritable Bowel Syndrome Antibiotic Sensitivity Test Antibiotic-Induced Proctitis Antibiotics for an Ear Infection, Deciding About Antibiotics, Using Wisely Antibody Tests for Lupus Anticoagulants for Stroke Prevention [healthmedicinet.com]