21. Aicardi-Goutières Syndrome News, descriptions, contacts, and other information concerning this leukodystrophy. http://www.aicardi-goutieres.com

Aicardi-Goutières syndrome If your Browser show this, please mail me ! here are the keywords for the search machine : aicardi goutieres goutières syndrom syndrome disease dna kinderkrankheit anfall attack hereditary chromosom erbfehler chromosomen selten rare gen myelin verkalkung interferon alpha özer oezer miller hane dorn lebon voit klepper oriano coppi tew schulz werder kremer dorn crow rodriguez petersen Østergaard Oliveira Why this side about Aicardi - Goutieres syndrom? What is Aicardi - Goutieres syndrome ? How is Aicardi - Goutieres diagnostics ? Childs with Aicardi - Goutieres syndrome !

22. Metachromatic Leukodystrophy Metachromatic leukodystrophy is a genetic disorder caused by a deficiency ofthe enzyme arylsulfatase A. Subscribe now . Metachromatic leukodystrophy. http://healthlink.mcw.edu/article/921440824.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Metachromatic Leukodystrophy Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Symptoms of the juvenile form begin between ages 4 and 14, and include impaired school performance, mental deterioration, ataxia, seizures, and dementia.

23. Leukodystrophy leukodystrophy refers to a group of genetic disorders that are characterized bythe imperfect growth or development of the white matter or myelin sheath http://healthlink.mcw.edu/article/921774741.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Leukodystrophy Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. The myelin sheath is an extremely complex fatty substance made of many components. Each of the leukodystrophies affects one of these components. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. Scientists say there may be other leukodystrophies that have not yet been identified. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease. Treatment of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs.

24. MEDLINEplus Medical Encyclopedia: Metachromatic Leukodystrophy Metachromatic leukodystrophy. Treatment Return to top At present,there is no treatment for metachromatic leukodystrophy itself. http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Metachromatic leukodystrophy Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names MLD; Arylsulfatase A deficiency Definition Return to top Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Causes, incidence, and risk factors Return to top Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile and adult types). The most common (and the most severe form) is the late infant onset form, which has symptoms such as irritability decreased muscle tone muscle wasting , the loss of the ability to walk. Debility is progressive with blindness seizures , and partial paralysis . Death occurs usually before age 10. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms

25. MLD Foundation - Support For Families With Metachromatic Leukodystrophy (MLD) Information, support, education and online networking for families throughout the world dealing with Metachromatic leukodystrophy (MLD). http://www.mldfoundation.org

The Premier Family Resource for Metachromatic Leukodystrophy Information MLD Research MLD Cure A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy... MLD'2002 was held in Pittsburgh. Legal and graphics arts help have recently been donated to help us with the growth of the Foundation Our new web site is here. Be sure to visit the brand new MLD-101. Your feedback is welcomed! (c) 2002, MLD Foundation s="na";c="na";j="na";f=""+escape(document.referrer) Is this your first time here? We're glad that you have found us and while many times your arrival here comes at a time of great personal trauma due to a recent diagnosis or encounter with MLD, we want you to know that you can count on us for support, information and to help you get connected with others that are also on the MLD journey. We welcome you and are here to offer you a Listening Ear and a Caring Heart. Be sure to check out all of what we have to offer. The MLD Family is where you can connect with others, and MLD-101 is where you can get a comprehensive, yet very readable, overview of MLD and how to deal with it in your family.

26. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Leukodystrophy,+Metachromatic Similar pages More results from www.nlm.nih.gov eMedicine Metachromatic leukodystrophy Article by Theodore Metachromatic leukodystrophy - Metachromatic leukodystrophy (MLD) is part ofa larger group of lysosomal storage diseases, some of which are progressive http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Leukodystrophy, Metachromatic

27. Leukodystrophy Connections Call Again Soon. leukodystrophy is killing my son Joey. The Call Again Soon is dedicatedto Joey. leukodystrophy definition. Source for DeafBlind Information. http://www.joejohnson.net/leukodystrophy_connections.htm

Call Again Soon Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most of his hearing by the time he was eighteen months old. The Call Again Soon is dedicated to Joey. Leukodystrophy definition Source for Deaf-Blind Information Download zip file of some searches Great Medical Links ... NORD-National Organization of Rare Diseases Leave E-Mail for Joe Johnson

28. The Stennis Foundation Raising public awareness regarding Metachromatic leukodystrophy, and raising funds for MLD research. http://www.stennisfoundation.org

The Stennis Foundation for MLD Online Welcome Contact Us Donate Online E-Mail ... Photos Here at The Stennis Foundation We're diligently working so that 2003 Is when a cure is found for MLD! click on logo to enter site The Stennis Foundation: Raising public awareness regarding MLD, and raising funds for MLD research. top Home Welcome Contact Information ... Links The Stennis Foundation P.O. Box 30065 Amarillo, Texas 79120 Phone: (806) 467-2747 E-mail: stennisfoundation@stennisfoundation.org

29. Bethanys Hope Foundation - For MLD Research A Canadian foundation funding research and serving families dealing with Metachromatic leukodystrophy disease (MLD) and other leukodystrophies. http://www.bethanyshope.com

Bethany's Story What is MLD? Research Family Area ... Help Upcoming Foundation Events 2003 Mar 2 Mardi Gras Dinner Marla Jane's Restaurant Click on the link above for more information. Apr 6 Beary Special Brunch 2003 Tiger Jack's Bar and Grill 11:00 am - 3:00 pm Click on the link above for more information. May 10 Gala Ball - "Somewhere over the Rainbow" Crystal Ballroom - Lamplighter Inn Click on the link above for more information. Aug 21 Ladies Tournament of Hope 2003 Cobble Hills Golf and Country Club Click on the link above for more information. Click Here to add Bethanys Hope to your Favorites! McAuley - My Child Bethanys Hope Foundation Site Last Updated: February 4, 2003 var site="s12bethany"

30. Leukodystrophy leukodystrophy Menu. This is a webforum to discuss and comment on leukodystrophy.Click here to Enter a new Neurology WebForum article http://neuro-www.mgh.harvard.edu/forum/LeukodystrophyMenu.html

Leukodystrophy Menu This is a webforum to discuss and comment on Leukodystrophy. Click here to Enter a new Neurology WebForum article... This Web Forum is not moderated in any sense. Anyone on the Internet can post articles or reply to previously posted articles, and they may do so anonymously. Therefore, the opinions and statements made in all articles and replies do not represent the official opinions of MGH and MGH Neurology. Neither is MGH or MGH Neurology responsible for the content of any articles or replies. No messages are screened for content. - Very Important Message! - Please Click Here to Read Current Posts: Oct 22, 1998 to Present Useful Websites can be found and posted here! (1/5/00) 2:27 PM New MGH Neurology Webforum! (12/30/99) 7:24 PM forum working OK now (12/27/99) 1:10 PM ... test posting (10/22/98) 5:58 PM IMPORTANT: If this page seems to be missing recently added documents, click the "Reload Page" button on your Web Browser to update the menu. Return to the main Neurology WebForum Page. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

31. Virtual Hospital Adrenal Leukodystrophy (ALD) Radiology resident case with references and images. http://www.vh.org/Providers/TeachingFiles/RCW/012696/012696.html

32. Chemical Leukodystrophy chemical leukodystrophy. This article submitted by Cindy Daubenmireon 9/12/95. Does anybody know what chemical leukodystrophy is? http://neuro-www.mgh.harvard.edu/neurowebforum/generalfeedbackarticles/chemicall

chemical leukodystrophy This article submitted by Cindy Daubenmire on 9/12/95. Does anybody know what chemical leukodystrophy is? Could it manifest itself similarly to MS? Where can I get information about it? Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... SLEEP (7/14/96) 12:40 AM chemical leukodystrophy (1/5/96) 22:30 You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") in your Article title! Response Title: Author: Response Text: Original Article: (Don't change this field!) Forum: (Don't change this field either!) Article complete. Click HERE to return to the Neurology Web-Forum Menu.

33. Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (GloboidCell leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. http://members.aol.com/hunterhope/

34. The DRM WebWatcher: Leukodystrophy A Disability Resources Monthly guide to the bestonline resources about leukodystrophy. http://www.disabilityresources.org/LEUKO.html

Home WebWatcher Regional Librarians ... Contact Us The DRM WebWatcher Leukodystrophy Updated 5/22/2001 A B C D ... About/Hint/Link Leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect growth or development of the myelin sheath that covers nerve fibers in the brain. Most leukodystrophies are characterized by a gradual changes in an infant or child who previously appeared well. There are various forms of leukodystrophy, including Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. For additional information, check these sites. Leukodystrophy This site from the Medical College of Wisconsin's Collaborative Hypertext of Radiology (CHORUS) provides brief overviews of various forms of leukodystrophy. NINDS Leukodystrophy Information Page A fact sheet from the National Institute of Neurological Disorders and Stroke. United Leukodystrophy Foundation (ULF) ULF is a nonprofit "dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies." Its website focuses on information about the organization and its services.

35. Leukodystrophy Back Home Next. leukodystrophy Alexander disease mini information sheet Fromthe National Institutes of Health (USA). United leukodystrophy Foundation. http://www.ability.org.uk/Leukodystrophy.html

Our Aims Services Stats ... Z Leukodystrophy Alexander disease mini information sheet - From the National Institutes of Health (USA) The Amn-Ald Community Pages - Support site for families dealing with the diseases Leukodystrophies). Canavan Foundation Canavan Research Fund - The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research Cockayne Syndrome treatment, prevention and much more DrKoop.com - Adrenoleukodystrophy Leukodystrophy - CHORUS document on the different types of Leukodystrophy. A little technical. Metachromatic Leukodystrophy (MLD) - Infomration from the Duke University for Patients and their families. United Leukodystrophy Foundation Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

36. Metachromatic Leukodystrophy: Research Into Developing Therapies UNIVERSITY of PITTSBURGH DEPARTMENT of HUMAN GENETICS Molecular Genetics Laboratory.Metachromatic leukodystrophy Research Into Developing Therapies. http://www.pitt.edu/~geneorb/metachromatic_leukodystrophy__new_approaches_to_tre

U NIVERSITY of P ITTSBURGH D EPARTMENT of H UMAN G ENETICS Molecular Genetics Laboratory Metachromatic Leukodystrophy: Research Into Developing Therapies Metachromatic leukodystrophy (MLD) is an inherited disease in which fatty substances build up in the brain and spinal cord. This buildup happens in the part of the brain and spinal cord called the white matter, affecting a person's mental development and ability to move in a coordinated way. Most forms of MLD appear in early childhood, but the disease may also occur in adults. It usually leads to progressive paralysis and, in children, early death. MLD is a rare disease, affecting about one in 50,000 people. Traditional forms of treatment have not been very successful at combating MLD. However, promising new approaches from the fields of gene therapy and cell transplantation provide hope for the future. What causes MLD? MLD is caused by an inability to break down sulfatide a fatty substance normally present in the brain. Scientists have traced the development of MLD to a defect in the gene that tells the body how to make an enzyme called arylsulfatase A (ASA). ASA is the enzyme responsible for breaking down sulfatide into smaller, harmless chemicals that can be eliminated or reused by the body. In MLD, the lack of proper ASA enzyme leads to a buildup of sulfatide, which causes a process called demyelination. Demyelination causes the symptoms of MLD affecting communication between nerves in the brain.

37. AshleysAngels.org | What Is Leukodystrophy? What is leukodystrophy? Answer leukodystrophy, also referred to How doesleukodystrophy occur? Answer Generally speaking, in leukodystrophy http://www.ashleysangels.org/whatis.htm

What is Leukodystrophy? Answer: Leukodystrophy, also referred to as "the Leukodystrophies," refers to a group of genetic disorders characterized by the imperfect development or maintenance of the white matter of the brain. The name comes from the Greek 'leuko' meaning "white," and 'dystrophy,' meaning "imperfect growth or development." When the term "dystrophy" is used in medicine, it is meant to imply a condition which is genetically determined, and which is progressive - that is, the condition tends to get worse as the patient gets older. What is "white matter" and what does it do? Answer: The term "white matter" refers to the fatty substance (made up of many components) that covers the nerve fibers in the brain. The "white matter" is the portion of the brain responsible for conducting electrical impulses from one area of the brain to the other. Insulating cells called "myelin" cover the brain and nerve cells in the "white matter." This is known as the "myelin sheath" and is rather like the insulation that surrounds an electrical cord. How does Leukodystrophy occur?

38. Partners Leukodystrophy Service At MGH Metachromatic leukodystrophy. After XALD, Metachromatic leukodystrophy(MLD) is the most frequently observed leukodystrophy. It http://fisher.mgh.harvard.edu/leuko/metochromatic.html

Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH Metachromatic leukodystrophy After X-ALD , Metachromatic leukodystrophy (MLD) is the most frequently observed leukodystrophy. It is a progressive disorder, transmitted by autosomal recessive inheritance. It is associated with the accumulation of sulfatides (ganglioside) in brain, kidney, liver and gall bladder. The metabolic abnormality lies in the absence or reduction of Arylsulfatase A function resulting in sulfatide accumulation and a demyelinating brain disorder. MLD manifests in a late infantile, juvenile and adult form. A progressive dementia is the primary manifestation of the disease. Peripheral neuropathy is a prominent disease manifestation in the late infantile and juvenile forms. Patients with the adult form of MLD may initially present with psychiatric disease or, more rarely, isolated peripheral neuropathy. Unlike X-ALD, MLD demonstrated a close genotype to phenotype correlation with only one form of the disease developing in a particular family. The disorder can be diagnosed by detecting sulfatide accumulation in urine. Arylsulfatase activity can be assayed in fibroblasts, but one must take care to distinguish between real and pseudodeficiency.

39. Partners Leukodystrophy Service At MGH Globoid cell leukodystrophy (Krabbe disease). Introduction. Globoid cellleukodystrophy (Krabbe disease) is a rare, inherited, lysosomal http://fisher.mgh.harvard.edu/leuko/globoid.html

Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH Globoid cell leukodystrophy (Krabbe disease) Introduction Globoid cell leukodystrophy (Krabbe disease) is a rare, inherited, lysosomal disease associated with progressive degeneration of the central and peripheral nervous systems. It is transmitted by autosomal recessive inheritance and results in almost complete absence of activity of the lysosomal enzyme galactosylceramide b-galactosidase activity. Various galactolipids, particularly, galactosylceramide and psychosine accumulate. Macrophages containing these galactolipids develop the globoid cell morphology. There is significant clustering of the disease among the Druze community in Israel. The disease has a radiologically characteristic pattern: CT scan: MRI scan: MLD 90% of patients present, before 6 months of age, with central and peripheral nervous system disease. These infants develop fevers, myoclonic seizures, blindness, spasticity and paralysis and usually die before their second birthday. The remaining 10% can develop disease at any age, with adults sometimes presenting with a painful peripheral neuropathy. The diagnosis is made by assaying the activity of galctosylcerebrosidase.

40. Leukodystrophy by only one click For Medical Professionals only. leukodystrophy,,Print this article, a disease of white matter which is caused http://www.amershamhealth.com/medcyclopaedia/Volume VII/leukodystrophy.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Leukodystrophy, a disease of white matter which is caused by dysmyelination, i.e. abnormal formation or increased breakdown of myelin caused by a variety of enzyme deficiencies, many of which are inherited. The enzyme deficiency may be in the lysosome peroxisome, or mitochondria, or there may be a specific enzyme deficiency which is not organelle specific. Examples of lysosomal disorders include metachromatic leukodystrophy Krabbes disease , the gangliosidosis mucolipidoses , and mucopolysaccharidoses and mannosidosis. Peroxisomal disorders include adrenoleukodystrophy , classical and neonatal, Zellwegers syndrome and infantile Refsums disease . The mitochondrial disorders include MELAS (mitochondrial encephalopathy, lactate acidosis and stroke), Leigh's disease, MERFF syndrome (myopathy, encephalopathy, and ragged red fibres) and trichopoliodystrophy (see

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