1. National Niemann-Pick Disease Foundation Provides in depth education and support for patients and families. Also information about the foundation Category Health Conditions and Diseases niemann-pick......National niemannpick Disease Foundation, Inc. Is a child These symptomsmay be an indication of niemann-pick Disease. Chances are you http://www.nnpdf.org/

National Niemann-Pick Disease Foundation, Inc. Is a child you know experiencing some or all of these symptoms? jaundice following birth abdominal enlargement progressive loss of early motor skills feeding and swallowing difficulties vertical eye movement difficulties enlarged spleen or liver learning problems sudden loss of muscle tone slurred speech seizures hypersensitivity to touch These symptoms may be an indication of Niemann-Pick Disease. Chances are you haven't heard all that much about Niemann-Pick Disease. It's a rare disease, but maybe not as rare as we think. You see, many times diagnosis is difficult. But by reviewing the information in this Website, you can become better informed about this disease and spread the word to others. Click below to visit a featured website. These featured sites were created by individual families to increase awareness and raise funds for research. Click below to see the index for each topic The Disease The Foundation The Research The People ... Complete Index Click below to view a specific page News Line Family Conference Contact Us Search the Site ... Membership Application This site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. You should always consult with a physician to determine if the information presented applies to your case.

2. NINDS Niemann-Pick Disease Information Page Factsheet posts a description and list of symptoms of this inherited metabolic disorder. Lists treatment, prognoses and organizations. What is niemannpick disease? Is there any treatment? http://www.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Niemann-Pick Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Niemann-Pick Disease Information Page Reviewed 11-27-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Niemann-Pick disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Niemann-Pick disease? Is there any treatment? There is currently no effective treatment for patients with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results have been reported. Since type B resembles type 1 Gaucher’s disease to a considerable degree, one might anticipate that enzyme replacement, and ultimately gene therapy, will eventually be helpful for these patients. Patients with types C and D are frequently placed on a low-cholesterol dietary regimen, but its clinical benefit is not convincing. What is the prognosis?

3. Niemann-Pick - AAFNP - Association Aide Aux Familles Niemann-Pick http://www.aafnp.org/

AIDE AUX FAMILLES NIEMANN-PICK A A F N P Consacré à la maladie de Niemann-Pick, le site de l' Association Aide aux Familles Niemann-Pick (AAFNP) est destiné aux patients, aux familles, aux amis, et à toute personne intéressée par cette affection. Il entend donner une information de base, dans un langage simple et accessible au profane. Etre informé permet de poser les questions pertinentes et de mieux dialoguer avec les spécialistes. Enfin, ces pages en français espèrent sortir de leur isolement les familles exclusivement francophones. Des sites d'associations de familles atteintes de la maladie de Niemann-Pick existent dans d'autres pays, cliquez sur les drapeaux pour les connaître. Q Ce sont deux affections distinctes qui sont rassemblées sous le terme de maladie de Niemann-Pick la première les Type A et Type B la deuxième maladie NP On distingue : le Type C1 dû aux mutations du gène NPC1 (chromosome 18), le Type C2 dû aux mutations du gène HE1 (chromosome 14), le Type D , qui est une variante du type C1 Comment se transmet la maladie de Niemann-Pick ?

4. Niemann-Pick Selbsthilfegruppe E.V. Consacré à la maladie de niemannpick, le site de l'Association Aide aux Familles niemann-pick (AAFNP) est destiné http://www.niemann-pick.de/

5. International Center For Types A And B Niemann-Pick Disease Of Mount Sinai Schoo Provides information on the prevention and treatment of this disorder for patients, physicians and scientists. http://www.mssm.edu/niemann-pick/

[an error occurred while processing this directive] he International Center for Types A and B Niemann-Pick Disease was established to provide information and support for patients with Types A and B NPD, as well as to scientists and physicians interested in these disorders. It is a voluntary, not-for-profit organization whose primary goals are to: promote medical research into the cause and treatment of Types A and B NPD, provide medical and educational information to assist in the correct diagnosis and referral of children with NPD, provide support to families of children with NPD, facilitate genetic counseling for parents who are known carriers of NPD, and encourage the sharing of research information among scientists. Reaching the Center Department of Human Genetics Mount Sinai School of Medicine 1425 Madison Avenue New York, New York 10029 1-800-NPD-INTL (1-800-673-4685) Schedule a Visit We encourage all NPD patients to visit our Clinical Research Center (CRC) at Mount Sinai to get evaluated by our team of NPD experts. Generally, this involves a two- to three-day stay on the CRC, which is a special unit of the hospital designed for such clinical studies. Hospitalization and other medical costs for these visits are free. For additional information and to schedule a visit, please contact Ms. Charlene Pearlman (212-659-6779). the school faculty students prospective students ... search mssm This site is maintained by the Web Development Office

6. Niemann-Pick Disease from the National Institute of Neurological Disorders and Stroke, NIH. National niemannpick Disease Foundation http://www.ncbi.nlm.nih.gov/disease/NP.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome 18 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Fact sheet from the National Institute of Neurological Disorders and Stroke, NIH National Niemann-Pick Disease Foundation an educational, support and fund-raising organization GeneClinics a medical genetics resource In 1914, GERMAN PEDIATRICIAN Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease. Recently, the major locus responsible for Niemann-Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Usually, cellular cholesterol is imported into lysosomes - 'bags of enzymes' in the cell - for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.

7. Ara Parseghian Medical Research Foundation About this foundation whose goal is to find a cure for the devastating niemannpick Type C disease. http://www.parseghian.org/apmrfweb/

Our Mission... The Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation, funds research projects that will lead to a treatment and cure for Niemann-Pick Type C disease. Recent News International Conference on Niemann-Pick Type C Disease Tucson, Arizona May 29-31, 2003 A GOAL FOR LIFE The Newsletter of the Ara Parseghian Medical Research Foundation Fall 2002 December 2002 Swing-for-a-Cure Niemann-Pick Type C Disease... Niemann-Pick Type C disease (NP-C) is a genetic, pediatric, neurodegenerative disorder. It is responsible for the build-up of cholesterol in such areas as the spleen and liver and for accumulation of gangliosides in the brain. This ganglioside build-up results in the eventual damage to the nervous system. This metabolic disorder leads to a series of neurological problems that are ultimately fatal. We Need Your Help!

8. Niemann-Pick Disease Group (UK) Helpline 01592-580672 Susan Green, Family Support Co-ordinator Kingslaw House EastBrae East Wemyss Fife KY1 4RS Scotland UK Email us at niemann-pick@zetnet.co http://www.nnpdf.org/npdg-uk/

The Niemann-Pick Disease Group (UK) is a registered charity within the United Kingdom providing information and support to families and professionals worldwide regarding all types of Niemann-Pick disease. The group provides a regular Newsletter and Telephone Helpline for members and families seeking assistance. In addition, the group sponsors an Annual Conference and Regional meetings. An important update on the OGT-918 clinical trial for UK families can be found at www.nnpdf.org/OGT918.htm [ January 21, 2002 ] NPDG (UK) Newsletter Volume 8.3 (Summer 2001) Volume 8.3 is a PDF format document which requires the use of the Adobe Reader to view. If you need the Reader or wish to upgrade, click on the graphic below. The Adobe Reader is provided at no charge. While a PDF format document is larger than regular web pages, it allows you to view all of the graphics and original formatting of the Newsletter. Volume 8.3 Contents Volume 8.2 (pdf - 288kb) Volume 8.1 Volume 7.3 Volume 7.2 Volume 7.1 ... Links to Other Groups Telephone Helpline 01-592-580672 Susan Green, Family Support Co-ordinator

9. Les Derniers Numéros Du Courrier Niemann-Pick De L'AAFNP. Translate this page Courrier niemann-pick Les derniers numéros du Courrier niemann-pick. LE COURRIERniemann-pick, décembre 2000. LE COURRIER niemann-pick, octobre 2000. http://www.aafnp.org/c_nparch.html

Courrier Niemann-Pick Les derniers numéros du Courrier Niemann-Pick LE COURRIER NIEMANN-PICK, décembre 2000 Extraits adaptés en français de "The Newsletter of the APMRF", la lettre d'information de l'Ara Parseghian Medical Research Foundation, Fall 2000, avec - Lettre aux familles : une lueur d'espoir. (Cindy et Mike Parseghian) - Essais cliniques avec OGT-918. Limites et perspectives. - Détection des porteurs et conseil génétique pour les membres des familles de patients NPC. - Résumé de la réunion 2000 du NPD Group (UK). Informations brèves : Les essais cliniques avec OGT-918 sur NPC (suite) Lire le "Courrier NP " de décembre 2000 LE COURRIER NIEMANN-PICK, octobre 2000 - Informations complémentaires : essais cliniques avec OGT-918 sur NP-C Extraits adaptés en français de la Niemann-Pick Newsletter, la lettre d'information de la National Niemann-Pick Disease Foundation, Fall 2000, vol. 1, issue 24, avec - Lettre aux familles (Dr Peter Pentchev) - Compte-rendu de la 8ème Réunion annuelle des familles de la NNPDF, Charleston, 21-23 juillet 2000

10. Niemann-Pick - Die Niemann Pick Selbsthilfegruppe E.V. Translate this page Die Niemann Pick Selbsthilfegruppe eV. Unsere Gruppe ist eine uns an.Die niemann-pick Selbsthilfegruppe eV wurde am 26. April 1997 http://www.niemann-pick.de/wirueberuns.html

Wir über uns Was bedeutet NP? Diagnose Therapie ... Kontaktaufnahme Die Niemann Pick Selbsthilfegruppe e.V. Unsere Gruppe ist eine gemeinnützige Vereinigung von Eltern, Medizinern, Freunden und sonstigen Personen, die die Suche nach einer Heilungsmethode für diese Krankheit unterstützen möchten. Wir haben erfahren müssen, daß fundiertes Wissen über die Erkrankung aufgrund ihrer geringen Häufigkeit nur in wenigen Zentren vorhanden ist. Die Gruppe hat es sich daher zur Aufgabe gemacht nationale und internationale Forschungsprojekte, die der Erforschung der Ursachen von Niemann Pick Typ A, B und C dienen und Heilungsmethoden versprechen, zu unterstützen. weltweit Infos für Betroffene und behandelnde Ärzte zu beschaffen und weiter zu verbreiten Kontakt zu namhaften Wissenschaftlern weltweit zu pflegen und zu vermitteln die Zusammenarbeit mit auf diesem Gebiet aktiven Selbsthilfegruppen zu fördern Erfahrungsaustausch Betroffener untereinander zu ermöglichen über Behandlungs- und Therapieansätze zu informieren Hilfe bei sozialen Fragen zu bieten nicht in Betroffenheit zu verharren, sondern hoffnungsvoll nach vorne zu blicken

11. NIH Scientists Identify Gene For Fatal Childhood Disorder, Niemann-Pick Type C NIH Scientists Identify Gene for Fatal Childhood Disorder, niemannpick Type CFinding Points to Critical New Steps in Cholesterol Processing For release http://www.ninds.nih.gov/news_and_events/pressrelease_fatal_childhood_niemannpic

12. Fundación Niemann Pick España Translate this page investigación nutrición en la enfermedad de niemann-pick articulo sobre nutrición,realizado por inmaculada gavilán ropero enfermera del servicio de http://www.fundniemannpick.org/esp/005_con.htm

investigación nutrición en la enfermedad de niemann-pick articulo sobre nutrición, realizado por inmaculada gavilán ropero enfermera del servicio de nutrición del hospital infantil virgen del rocío de sevilla y donde da respuesta a las necesidades que se van presentando con respecto a los trastornos en la alimentación de nuestros hijos. genética y enfermedad de niemann-pick tipo c artículo elaborado por la dra. m.j.coll del instituto de bioquímica clínica. corporació sanitària clinic, dirigido a familiares y colaboradores de nuestra fundación. en el mismo, la citada investigadora, nos acerca al mundo de la genética molecular y su relación con la enfermedad de niemann pick tipo c, las posibilidades del diagnóstico molecular y la importancia del diagnóstico bioquímico como diagnóstico definitivo. hay que resaltar y agradecer la explicación sobre qué consiste la prueba de la "filipina" que unida a imágenes obtenidas mediante microscopio hacen totalmente comprensible tan importante medio de diagnóstico. estudio de la expresión fenotípica y de su relación con el genotipo en la enfermedad niemann pick tipo c, protocolo de remisión de muestras

13. International Center For Types A And B Niemann-Pick Disease Of Mount Sinai Schoo Patient. Overview of niemannpick Disease. iemann-Pick Disease (NPD)refers to a group of inherited diseases. The three most commonly http://www.mssm.edu/niemann-pick/niemann-pick.shtml

[an error occurred while processing this directive] Patient Overview of Niemann-Pick Disease iemann-Pick Disease (NPD) refers to a group of inherited diseases. The three most commonly recognized forms are called Types A, B and C. The name Niemann-Pick derives from two German pediatricians - Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927. Types A and B NPD are both caused by the deficient activity of acid sphingomyelinase (ASM). This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a special lipid called sphingomyelin . If ASM is absent or not functioning properly, this lipid cannot be metabolized properly and is accumulated within the cell, eventually causing cell and organ system abnormalities. Although Types A and B NPD are both caused by the same enzyme deficiency and are variants of the same disease, the clinical prognosis for these two groups of patients is very different (see Signs and Symptoms Abnormalities in the ASM Gene that Cause Type A or B NPD The gene that makes ASM is located on human chromosome 11. Many ASM genes from NPD patients have been studied, and the abnormalities (i.e., mutations) that lead to NPD have been identified. Most patients with Types A and B NPD have unique mutations that occur only in their own family. Knowledge of these mutations helps to confirm the enzymatic diagnosis of NPD and permits accurate carrier detection in other family members. In some ethnic groups, several mutations have been found that occur in more than one family (i.e., "common" mutations). For example, among Ashkenazic Jewish individuals, three mutations called "L302P," "fsP330," and "R496L" account for ~90% of all of the mutations occurring in the ASM genes of Type A NPD patients. Another mutation, called "delta R608," has occurred in several unrelated families with Type B NPD from different ethnic backgrounds. This mutation has never occurred in a family with Type A NPD, and it is a good indicator of Type B NPD.

14. GeneReviews: Niemann-Pick Disease, Type C Your browser does not support HTML frames so you must view niemannpick Disease,Type C in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/npc/

Your browser does not support HTML frames so you must view Niemann-Pick Disease, Type C in a slightly less readable form. Please follow this link to do so.

15. The NTSAD Diseases Family: Niemann-Pick Disease Today, there are three separate diseases that carry the name niemannpick TypeA, Type B and Type C. The majority of the infants affected with the acute http://www.ntsad.org/pages/n-pick.htm

Niemann-Pick Disease IN 1914 ALBERT NIEMANN, A German pediatrician, described a young child with an enlarged liver and spleen, enlarged lymph glands, swelling and a darkening of the skin of the face. The child had brain and nervous system impairment and died in less than six months, before the age of two. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. T oday, there are three separate diseases that carry the name Niemann-Pick: Type A, Type B and Type C. The majority of the infants affected with the acute infantile form of Niemann-Pick described above (now called Type A) are of Ashkenazi Jewish ancestry. The less common Niemann-Pick disease, Type B, a chronic non-neurological form, shows the same ethnic predilection as Type A. It has been estimated that about 1/1000 Ashkenazi Jews is a carrier for one of these forms of Niemann-Pick Disease. Niemann-Pick Type C, a biochemically and genetically distinct from of the disease, does not show this ethnic predilection and occurs with similar frequency in all populations. I nfantile, or Type A, Niemann-Pick Disease occurs most frequently and it accounts for about 85% of all cases of the disease. Its effects begin in the first few months of life; by six months of age feeding difficulties, progressive loss of early motor skills and enlargement of the abdominal organs are usually present. Continued poor feeding causes children to take on an emaciated look accompanied by abdominal distension. Their skin may develop a brownish-yellow discoloration, and about one-third of affected children have a cherry-red spot in the eye similar to that found in children with Tay-Sachs Disease. There is progressive loss of motor and mental function and death usually occurs between two and three years of age.

16. Niemann-Pick Disorder niemannpick Disorder. Donations can be made to The National niemann-pickDisease Foundation. The Ara Parseghian Medical Research Foundation. http://zevis11.tripod.com/niemann-pick/

document.isTrellix = 1; Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Niemann-Pick Disorder Symptoms Detection and Treatment Research Further Information ... Bibliography My name is William, and my brother Jacob was born with Nieman-Pick disease. I love him dearly, and watching him struggle through this disease has been heartbreaking. No one should have to suffer like he has. Presently there is no direct cure for the disease, however with more research one will come. Founding for this research is greatly needed. I have therefore decided to educate the public about the disease in order that more people will donate money to the many foundations working towards a cure. Please take the time to read through this web site, and learn about this dreadful disease. Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. It is an

17. MEDLINEplus Enciclopedia Médica: Niemann-Pick Translate this page niemann-pick. Nombres alternativos Volver al comienzo Deficiencia de esfingomielinasa(enfermedad de niemann-pick tipo A). Definición Volver al comienzo. http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001207.htm

Omita y vaya al Contenido Otros enciclopedia temas: A-Ag Ah-Ap Aq-Az B-Bk ... Z Niemann-Pick Contenido: Nombres alternativos Definición Causas, incidencia y factores de riesgo Síntomas ... Células espumosas de Niemann-Pick Nombres alternativos Volver al comienzo Deficiencia de esfingomielinasa (enfermedad de Niemann-Pick tipo A) Definición Volver al comienzo La enfermedad de Niemann-Pick es causada por mutaciones genéticas específicas. Las cuatro formas de la enfermedad de Niemann-Pick se caracterizan por una acumulación de esfingomielina y colesterol en las células, particularmente en las células de órganos importantes como el hígado y el bazo. Las tres formas más conocidas de la enfermedad son los tipos A, B y C. Causas, incidencia y factores de riesgo Volver al comienzo Todos los tipos de Niemann-Pick son enfermedades genéticas que se heredan de forma autosómica recesiva. Los tipos A y B de Niemann-Pick son causados por le deficiencia de la actividad de una enzima específica, la esfingomielinasa ácida (ASM), si esta no está o no funciona de manera adecuada, la esfingomielina no puede ser metabolizada de manera adecuada y se acumula dentro de la célula provocando eventualmente la muerte celular y el mal funcionamiento de sistemas orgánicos importantes. El tipo D de Niemann-Pick es muy diferente de los tipos A y B. Los pacientes con tipo C no son capaces de metabolizar el colesterol y otros lípidos de manera adecuada. Consecuentemente se acumulan cantidades excesivas de colesterol dentro del hígado y el bazo y se acumulan cantidades excesivas de otros lípidos en el cerebro. El defecto del metabolismo ocasionalmente conduce a reducción secundaria de la actividad de la esfingomielinasa ácida en algunas células.

18. MEDLINEplus Medical Encyclopedia: Niemann-Pick niemannpick. Alternative names Return to top Sphingomyelinase deficiency(type A niemann-pick disease). Definition Return to top http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Niemann-Pick Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Niemann-Pick foamy cells Alternative names Return to top Sphingomyelinase deficiency (type A Niemann-Pick disease) Definition Return to top Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Causes, incidence, and risk factors Return to top All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells.

19. Ara Parseghian Medical Research Foundation - Research Conference Home International Conference on niemannpick TypeC Disease Tucson, Arizona May 29-31 2003. http://www.parseghian.org/apmrfweb/conferencehome.htm

Research Implications Funded Researchers Research News Advisory Board ... RFA International Conference on Niemann-Pick Type C Disease Tucson, Arizona May 29-31 2003 ABSTRACTS GENERAL INFORMATION PROGRAM REGISTRATION ... NP-C FAMILIES The International Scientific Conference on Niemann-Pick Type C disease will provide a forum for scientific activity in the areas of genetics, lysosomal storage disorders, and pediatric neurodegenerative disorders with special emphasis on Niemann-Pick Type C disease research. The conference will allow those who work in these and related areas to showcase their work, exchange ideas and to catch up on new advances in NPC1 and NPC2 research. The program will include a poster display and poster rounds. Session topics will include current

20. The Contact A Family Directory - NIEMANN-PICK DISEASE printer friendly, niemannpick DISEASE, Internet article. niemann-pickDISEASE GROUP (UK). niemann-pick Disease Group (UK) Kingslaw http://www.cafamily.org.uk/Direct/n30.html

printer friendly NIEMANN-PICK DISEASE home more about us in your area conditions information ... how you can help search this site There are a number of types of Niemann-Pick Disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow. Most types of Niemann-Pick Disease involve progressive neurological deterioration. Both sexes are equally affected. The main types of Niemann-Pick Disease are: Niemann-Pick Type A This acute form has an onset at one to two months and involves learning difficulties and failure to thrive. Life expectancy does not usually exceed 3 years. 40% of those affected individuals are Ashkenazi Jews. Niemann-Pick Type B Onset of the condition manifests itself later. Enlargement of the spleen is usually a first sign of the condition with enlargement of the liver taking place later. Respiratory infections are common. Central nervous system disease is not associated with this form Niemann-Pick Type C Usually there is normal development until the age of about two, but often much later. Enlargement of the spleen is accompanied by progressive loss of speech and ataxia. A characteristic visual movement disorder - vertical supranuclear gaze palsy (VSGP) - is seen, and cataplexy and grand mal seizures may occur. Learning difficulties are progressive with a very varied life expectancy of between five and forty years before dementia leads to death. In about one third of patients significant neonatal liver disease occurs. This is often diagnosed as neonatal hepatitis (see separate entry

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