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         Genetic Disorders General:     more books (100)
  1. Genetics and Genomics of Neurobehavioral Disorders (Contemporary Clinical Neuroscience) (Contemporary Clinical Neuroscience)
  2. Genetics of Mental Disorders: What Practitioners and Students Need to Know by Stephen V. Faraone, Ming T. Tsuang, et all 2001-12-15
  3. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
  4. Molecular Genetics of Mental Disorders: The Place of Molecular Genetics in Basic Mechanisms and Clinical Applications in Mental Disorders by Mike Briley, Fridolin Sulser, 2000-01-01
  5. The Genetics of Mood Disorders (Johns Hopkins Series in Contemporary Medicine and Public Health) by Ming T. Tsuang, Stephen V. Faraone, 1990-05-01
  6. Genetics of Movement Disorders by Stefan M. Pulst, 2002-10-03
  7. Genetics of Kidney Disorders by Christos S. Bartsocas, 2000-05
  8. Genetic Variation and Disorders in Peoples of African Origin (Johns Hopkins Series in Contemporary Medicine and Public Health) by James E. Bowman, Robert F., Jr. Murray, 1998-12-07
  9. Towards a Healthy Baby: Congenital Disorders and the New Genetics in Primary Care (Oxford Medical Publications) by Bernadette Modell, Michael Modell, 1992-06-25
  10. Mouse Models in the Study of Genetic Neurological Disorders (Advances in Neurochemistry)
  11. Unraveling the genetics of bipolar disorder: by participating in ongoing studies of families at risk, Post readers are helping researchers identify suspect ... An article from: Saturday Evening Post
  12. Genetics and Auditory Disorders
  13. The Genetics of Neurological Disorders by Michael Baraitser, 1997-12-15
  14. Genetics and Psychiatric Disorders by JAN, ED. WAHLSTROM, 1998-03-01

21. Genetic Disorders | (almost) All The New Zealand Web Sites You Will Ever Want! P
disorders; Endometriosis; Family Planning; Family Planning; GamblingProblems; general Health Care; genetic disorders; Genitals; Glands; Head
http://www.piperpat.co.nz/nz/health/genetic.html
Bottom of Page PIPERS Home PIPERS New Zealand Pages Home Search This Site ... Add/Submit/Modify a Link
PIPERS New Zealand Pages
This page is regularly updated. However, with over 60,000 links in our 1000+ NZ pages, maintained on a part-time basis, it is impossible to keep up with all of them. If you find that any of the links are not working, wrongly labelled, or in the wrong place, or if you would like to suggest some useful new New Zealand links, please let us know so that we can modify the listing. Click here to Email us about the web site, or about Intellectual Property.
But this page is simply part of our list of New Zealand web sites. For information about the contents of this page, don't write to us, follow the links on the page instead. have not gone into business in competition with the folk listed on this or any related page. Please Note: Updates to this web site are on temporary hold, while some major maintenance is being performed. We apologise for any inconvenience.
Genetic Disorders
  • ABCD - Aiming for the Best for Children with Down Syndrome.
  • APECED - Jeanette's Home Page.

22. List Of Genetic Disorders - Encyclopedia Article About List Of Genetic Disorders
List of genetic disorders is not available in the general English dictionary.Try encyclopedia. You may also use the word browser links
http://www.thefreedictionary.com/List of genetic disorders
Dictionaries: General Computing Medical Legal Encyclopedia
List of genetic disorders
Word: Word Starts with Ends with Definition The following code indicates the type of mutation; the following number (or X or Y) indicates the chromosome involved.
  • P - Point mutation, or any insertion/deletion entirely inside one gene.
  • D - Deletion of a gene or genes.
  • C - Whole chromosome extra, missing, or both.
Angelman syndrome Angelman syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed. It was discovered in 1965 by Harry Angelman. Children with Angelman syndrome are generally late to develop and speak very little but have good linguistic comprehension. They have a protruding lower jaw or tongue. They laugh often, hold their arms as if they were a marionette, and flap them around, which gave the syndrome its initial name, "happy puppet syndrome".
Click the link for more information. DCP 15 Canavan disease Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers
Click the link for more information.

23. Genetic Disorders Information, Support And Other Resources For UK Patients
BBC Gene Story the BBC have a useful genetic section giving informationabout genetics in general and an A to Z of genetic disorders;
http://www.equip.nhs.uk/topics/genetic.html
Genetic disorders
Home Information Topics Further information General Health Information ...
Other information
What are genetic disorders? The following links take you straight to pages of information about genetic disorders. This information has been checked by doctors to ensure it is correct and appropriate for UK patients.
  • British Society for Paediatric Endocrinology and Diabetes - contains information written by a specialist doctor on: Achondroplasia, Congenital Adrenal Hyperplasia (21 hydroxylase), Congenital Adrenal Hyperplasia (11 hydroxylase), Congenital Adrenal Hyperplasia - treatment in pregnancy, Complete Androgen Insensitivity Syndrome (CAIS), Congenital Hypothyroidism, Coeliac Disease, Delayed Puberty, Diabetes Insipidus, Grave's Disease (Thyrotoxicosis), Growing Pains, Gynaecomastia, Hypopituitarism, Hypothyroidism (Acquired), Klinefelter's Syndrome, Labial Adhesions, Marfan's Syndrome, Overweight, Partial Androgen Insensitivity Syndrome (PAIS), Precocious Puberty, Steroid Replacement, Steroid Treatment, Tall Stature, Turner's Syndrome Contact a Family - information and support on many specific conditions and rare disorders written by doctors
EQUIP also has separate pages of information on rheumatic disorders/arthritis congenital heart diseases food intolerance and many other topics that might also be useful.

24. General Public: Genetic Disorder Research At Genzyme
return to general Public main page. Other genetic disorders Research beingconducted at Genzyme. Introduction. Treatment for the following
http://www.genzyme.com.au/public/research_and_development_public.htm
Other Genetic Disorders Research
being conducted at Genzyme Introduction Treatment for the following genetic disorders is currently being investigated by Genzyme and various collaborators.
  • Cystic Fibrosis
    Hereditary Angioedema

    Pemphigus Vulgaris
  • here
    Cystic Fibrosis
    More details coming soon! Top of Page
    Hereditary Angioedema

    More details coming soon! Top of Page
    Pemphigus Vulgaris

    More details coming soon! Top of Page Need more information Top of Page Next Page
    Genzyme Australasia, 1999-2000. Last updated 07 April 2004 01:00 PM Website designed, built and maintained by Genzyme Australasia Pty Ltd and Labyrinthos Internet Agency

    25. IPL General/Reference Collection: Genetic Disorders
    To the lobby ofthe Internet Public Library. genetic disorders Resources. Health Medical Sciences Diseases, disorders Syndromes genetic disorders.
    http://www.ipl.org.ar/ref/RR/static/hea14.34.00.html
    the Internet Public Library
    Genetic Disorders Resources
    Show Me Associations Serials in this category. No further Subcategories
    Resources in this category are:
    The A-T Children's Project
    http://www.atcp.org
    The A-T Children's Project Home Page was "created to provide physicians, research scientists, families and support providers with information about an inherited childhood disease called Ataxia-Telangiectasia." You can find answers to questions such as what A-T is, how it is inherited, and how to diagnose patients. Information about A-T's relevance to common diseases and recent A-T research can also be found. Additionally, sections specifically for research scientists and physicians are provided. You can also read information about the A-T Children's Project itself.
    Author: Brad Margus (bradmargus@atcp.org)
    Subjects:
    Social SciencesSocial Issues and Social WelfareDisabilities
    Keywords: Ataxia-Telangiectasia
    Down Syndrome Frequently Asked Questions
    http://www.nas.com/downsyn/faq.html
    This site offers a list of frequently asked questions about Down Syndrome that was compiled by Dr. David S. Smith. The list is broken down into two categories - background and medical - with questions like what is Down Syndrome, what are the causes, types, diagnosis, and treatments. A bibliography is also included.
    Author: Tracey Finch (trace@nas.com)

    26. Lesson Plans Genetics
    general genetics, Inheritance Patterns, genetic Counseling Biotechnology. BirthDefects, genetic disorders and Pedigree Analysis Students research a genetic
    http://www.kumc.edu/gec/lessonpl.html
    Genetics Lesson Plans An archive of classroom activities submitted by high school biology and life sciences teachers participating in the Human Genome Teacher Networking Project program prior to October 1997, individual teachers may have updated information, supplemental materials, and references. Other ideas for lesson plans are at the lesson plan site Ethical, Legal, and Social Implications of the Human Genome Project Bioethics and the HGP Case studies of Fragile-X, colon cancer, Huntington disease and schizophrenia are used in decision making situations which are evaluated using the Principles and Rules of Ethics. DNA fingerprinting is evaluated in terms of privacy issues. Knappers and Chadwick's 5 Basic Principles Regarding Ethical or Legal Norms of the Human Genome Project are discussed. Bioethics: Debates in the Science Classroom Debates in the Biology class?! Absolutely! Incorporating performance assessment activities such as debate, mock trial, and parody allow the "non-science" student chances to excel. Bioethical decision-making is a perfect classroom tool. Biotechnology Education Program The Biotechnology Education Program is a two-three week multidisciplinary, spiraled curriculum that exposes entire high schools to the issues involved/or brought about by improvements in biotechnology. Math, English, Social Science, and Science lessons have been written by teachers to explore themes over a given year. This was developed at Lawrence Livermore National Laboratory.

    27. Genetic Disorders - Organizations
    Web Directory ? American Society of genetic disorders Informs health professionals,legislators, health policy makers, and the general public about all
    http://www.healthcyclopedia.com/genetic-disorders/organizations.html

    Home
    Health cyclopedia All Topics
    by Category
    The Complete Guide to Health Care Resources on the Internet Health
    Conditions

    A-Z
    Gurus ... genetic disorders > organizations
    Genetic Disorders - Organizations
    Information / Diagnosis / Treatment / Prevention
    • External links (marked with an arrow ) open in a new window.
    • This site is a web directory and does not offer medical advice.
    • We cannot take responsibility for information found on listed sites.
    This Page
    Related Topics

    Health News

    MEDLINE Database

    Web Directory:

    Related Topics: Organizations/Conditions and Diseases
    Health News: Search millions of published articles for news on Genetic Disorders - Organizations Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. National Library of Medicine's MEDLINE/PubMed Database of Research Articles: Search PubMed Abstracts for "Genetic+Disorders+Organizations" Search PubMed Central Full Text Articles from Life Sciences Journals for "Genetic+Disorders+Organizations" Web Directory: American Society of Genetic Disorders Informs health professionals, legislators, health policy makers, and the general public about all aspects of human genetics.

    28. Genetic Disorders
    Diets general Health Fitness Medical genetics genetic disorders Complications Health status indicators Food allergy genetics Medical .
    http://topics.practical.org/browse/Genetic_disorders
    topics.practical.org
    Genetic disorders
    Management of Genetic Syndromes Suzanne B. Cassidy Judith E. Allanson
    Genetic disorders
    ... Otolaryngology

    29. Genetic Disorders
    Books There are many books on these various genetic disorders foundin the general collection; use the OPAC to locate them. You
    http://www.wtps.org/wths/imc/Teacher_Assignment/science/ferri genetic disorders.
    Genetic Disorders Directions Books Databases General Resources ... Resources for Specific Disorders
    Directions This assignment continues our study of genetic disorders. You will research 5 genetic disorders and answer the following questions:
    • What kind of human genetic disorder is this condition? What are the characteristics of persons with the disorder? What is/are the current research/treatments for the disorder? what three bits of interesting information about the disorder did you discover?
    Books
    There are many books on these various genetic disorders found in the general collection; use the OPAC to locate them. You can also find books in the reference section:
    R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects
    R 616.003 Hum - Human Diseases and Conditions
    R 576.50 Wor - The World of Genetic Disorders
    Also consult your textbook, Applied Genetics, Chapter 27. Online Databases
    These can be accessed from the desktop of the IMC computers and from home from the IMC's home page - you will need a user ID and password
    Ebscohost for magazine and newspaper articles
    Gale Group - Student Resource Center: Health Module Top of Page
    General Resources - start here for information Google - this search engine's listing of genetic disorders is wonderful; it is arranged alphabetically by the disorder and you can find 99% of the assigned disorders here.

    30. Genetic Disorders
    Resources. Books There are many books on these various genetic disordersfound in the general collection; use the OPAC to locate them.
    http://www.wtps.org/wths/imc/Teacher_Assignment/science/cosgrove_genetic_disorde
    Genetic Disorders and Traits Directions Books Databases General Resources ... Resources for Specific Disorders
    Due Date : Monday, April 3rd. An additional 5 points will be given to anyone who submits the report by Friday, March 31. Directions This assignment continues our study of genetic disorders. You are free to choose any disease or trait that is in your family where there is literature on the topic. However, the choice of topic is on a first come, first serve policy. Everyone gets their own topic, unique to their family. You should add a personal "flavor" to your report with a brief history of who in your family is afflicted with a disease or illustrates the trait or is a carrier for a trait. MLA Format is required for Works Cited and parenthetical citations (in-text documentation) See IMC Home Page The information to be included in this report is broken down in a rubric The report should be approximately 4-5 written pages, single space. You are required to use at least three sources of information on your family disease or trait. All sources should be current - no older than 5 to 7 years. Resources Books
    There are many books on these various genetic disorders found in the general collection; use the OPAC to locate them. You can also find books in the reference section:

    31. Mental Health: A Report Of The Surgeon General - Chapter 3
    The causes of eating disorders are not known with precision but are thoughtto be a combination of genetic, neurochemical, psychodevelopmental, and
    http://www.surgeongeneral.gov/library/mentalhealth/chapter3/sec6.html
    Chapter 3
    Children and Mental Health
    Normal Development
    • Theories of Development
    • Social and Language Development ... References
      Other Mental Disorders in Children and Adolescents
      Anxiety Disorders
      The combined prevalence of the group of disorders known as anxiety disorders is higher than that of virtually all other mental disorders of childhood and adolescence (Costello et al., 1996). The 1-year prevalence in children ages 9 to 17 is 13 percent (Table 3-1). This section furnishes brief overviews of several anxiety disorders: separation anxiety disorder, generalized anxiety disorder, social phobia, and obsessive-compulsive disorder. Treatments for all but the latter are grouped together below. Separation Anxiety Disorder
      Separation anxiety is often associated with symptoms of depression, such as sadness, withdrawal, apathy, or difficulty in concentrating, and such children often fear that they or a family member might die. Young children experience nightmares or fears at bedtime. About 4 percent of children and young adolescents suffer from separation anxiety disorder (DSM-IV). Among those who seek treatment, separation anxiety disorder is equally distributed between boys and girls. In survey samples, the disorder is more common in girls (DSM-IV). The disorder may be overdiagnosed in children and teenagers who live in dangerous neighborhoods and have reasonable fears of leaving home. The remission rate with separation anxiety disorder is high. However, there are periods where the illness is more severe and other times when it remits. Sometimes the condition lasts many years or is a precursor to panic disorder with agoraphobia. Older individuals with separation anxiety disorder may have difficulty moving or getting married and may, in turn, worry about separation from their own children and partner.

    32. Mental Health: A Report Of The Surgeon General - Chapter 4
    highest category, which called for nonmolecular genetic and/or the treatment of majormental disorders a half ECT are those of brief general anesthesia, which
    http://www.surgeongeneral.gov/library/mentalhealth/chapter4/sec3_1.html
    Chapter 4
    Adults and Mental Health
    Chapter Overview
    • Mental Health in Adulthood
    • Stressful Life Events ... References
      Etiology of Mood Disorders
      Biologic Factors in Depression
      the biological abnormalities
      interrelate, how they correlate with behavioral and emotional patterns that seem to distinguish one subcategory of major depression from another, and how they respond to diverse forms of therapy. In the search for biological changes with depression, it must be understood that a biological abnormality reliably associated with depression may not actually be a causal factor. For example, a biologic alteration could be a consequence of sleep deprivation or weight loss. Any biological abnormality found in conjunction with any mental disorder may be a cause, a correlate, or a consequence, as discussed in Chapter 2. What drives research is the determination to find which of the biological abnormalities in depression are true causes, especially ones that might be detectable and treatable before the onset of clinical symptoms. Monoamine Hypothesis
      For many years the prevailing hypothesis was that depression was caused by an absolute or relative deficiency of monoamine Despite the problems with the hypothesis that monoamine depletion is the primary cause of depression, monoamine impairment is certainly one of the manifestations, or correlates, of depression. Therefore, the monoamine hypothesis remains important for treatment purposes. Many currently available pharmacotherapies that relieve depression or cause mania, or both, enhance monoamine activity. One of the foremost classes of drugs for depression, SSRIs, for example, boost the level of serotonin in the brain.

    33. INSource Insurance Thesaurus
    general PROVISIONS OF THE 21ST CENTURY FINANCIAL MODERNIZATION ACT OF 2000. GENERICMEDICATIONS. Broader, Medications. genetic DISCRIMINATION ACT. genetic disorders.
    http://insource.nils.com/includes/thesaurus/Thesaurus-G.htm
    Help A B C ... Z
    Index Terms: G
    GAMBLING FACILITIES Use Gaming facilities GAMING FACILITIES Broader Facilities Use For Gambling facilities Use For Horse racing GAP COVERAGE Related Automobile insurance Related Leased property Related Property insurance Related Total losses GARAGE KEEPERS Use Automotive services industry personnel GARNISHMENT Use Attachment GATEKEEPER POLICIES Broader Policies (contracts) Related Direct provider access Related Medical cost containment Related Participating health care providers Related Preferred provider plans Use For Primary care Gatekeeper policies GENDER BASED CLASSIFICATIONS Broader Risk classifications Related Blended mortality tables Related Discrimination Related Sex discrimination Related Women Use For Sex based classifications GENDER BLENDED MORTALITY TABLES Use Blended mortality tables GENDER TAX REPEAL ACT OF 1995 GENERAL AGENTS AND MANAGERS Use Managing general agents GENERAL CORPORATION LAW OF THE STATE OF DELAWARE GENERAL DAMAGES Use Noneconomic losses GENERAL LINES AGENT AND BROKER LAW GENERAL LINES AGENTS Broader Agents Broader General lines representatives Narrower Automobile insurance agents Narrower Casualty agents Narrower Credit insurance agents Narrower Property insurance agents Narrower Surety agents Narrower Title insurance agents Narrower Travel accident agents Related Agents certificates of authority Use For Local recording agents Use For Property and casualty agents GENERAL LINES AGENTS LAW GENERAL LINES BROKERS Broader Brokers Broader General lines representatives Related Surplus lines brokers GENERAL LINES CONSULTANTS Broader

    34. Disease Directory : Genetic Disorders : Weaver Syndrome
    Weaver Syndrome Offers alternate names, a general discussion and further resources.National; Conditions and Diseases genetic disorders Weaver Syndrome
    http://www.diseasedirectory.net/Genetic_Disorders/Weaver_Syndrome/default.aspx
    Wednesday, June 09, 2004 Genetic Disorders
    Aarskog Syndrome

    Aase Syndrome

    Ablepharon-Macrostomia Syndrome
    ... Genetic Disorders : Weaver Syndrome

    35. Disease Directory : Genetic Disorders : Aase Syndrome
    Aase Syndrome genetic disorders / Aase Syndrome. Categories related to Aase SyndromeNORD Aase Syndrome A look at the alternate names, a general discussion
    http://www.diseasedirectory.net/Genetic_Disorders/Aase_Syndrome/default.aspx
    Wednesday, June 09, 2004 Genetic Disorders
    Aarskog Syndrome

    Aase Syndrome

    Ablepharon-Macrostomia Syndrome
    ... Genetic Disorders : Aase Syndrome
    • AASE (syndrome d’) - Aase (syndrome d’). Maladie rare, familiale et cong©nitale associant des pouces comportant trois phalanges avec une an©mie de type Blackfan-Diamond. Aase syndrome - Aase syndrome. Calling your health care provider: Call your health care provider if you notice possible signs of Aase syndrome in your child. Aase syndrome - Aase syndrome. Definition: Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. Alternative Names: Aase syndrome - Aase syndrome. Alternative Names: Calling your health care provider: Call your health care provider if you notice possible signs of Aase syndrome in your child. Aase Syndrome - Aase Syndrome. Disorder Subdivisions. None. General Discussion. Aase syndrome is a rare genetic disorder that may be detected during early infancy. Aase syndrome - Aase Syndrome. Adam.com: An Overview A definition of Aase syndrome with a brief discussion on causes, incidence and risk factors. Aase syndrome - Aase syndrome. Alternative Names: Aase-Smith syndrome. Symptoms: Mildly slowed growth; Pale skin; Delayed closure of fontanelles (soft spots); Narrow shoulders;

    36. The DRM WebWatcher: Rare Disorders
    The site also offers general information about rare disorders, a kids MedicalSchool s authoritative catalog of human genes and genetic disorders.
    http://www.disabilityresources.org/RARE.html
    Home Subjects States Librarians ... Contact Us
    The DRM WebWatcher (Subjects) Rare Disorders Updated 4/2000 A B C D ... About/Hint/Link
    Can't find the rare or genetic disorder you are looking for in our section on specific diseases ? These sites provide information or linkages relating to a wide variety of rare and genetic disorders.
    Note: Parents of children with rare disorders who are looking for other parents of children with the same conditions may also want to check our page of matching services
    The Genetic Alliance
    Formerly the Alliance of Genetic Support Groups, the Alliance "an international coalition of individuals, professionals and genetic support organizations that is working together to enhance the lives of everyone impacted by genetic conditions." Its web site includes a database of organizations that can be searched by genetic condition, organization name, and even services offered.
    Birth Defect Research for Children
    Formerly the Association of Birth Defect Children (ABDC) - my, we have a lot of name changes this year! - the Asociation provides parents and professionals with information about birth defects and services for children with disabilities, sponsors the National Birth Defect Registry and parent matching service, and studies links between drugs, radiation, alcohol, chemicals, lead, mercury, dioxin and birth defects. The site features fact sheets, a newsletter, links, and information about the organization.

    37. Research Foundation & Fact Sheets - Genetic Disorders Of Metabolism: Cerebral Pa
    Research Foundation Fact Sheets. Research Fact Sheets general InfoGenetic disorders of Metabolism Cerebral Palsy, 5/2000. Comment
    http://www.ucp.org/ucp_generaldoc.cfm/1/4/24/24-6607/529
    Education Employment Housing Transportation ... Travel Your UCP: National June 09, 2004
    Research Fact Sheets: General Info
    Genetic Disorders of Metabolism: Cerebral Palsy, 5/2000

    Comment:
    In the not too distant past, any infant or child who had an unexplained developmental disorder that included muscle spasticity and/or unusual body movements (athetosis; dystonia) was often referred to as having cerebral palsy (CP). The children were included in the cerebral palsy category even though they had other major problems which were only sometimes associated with cerebral palsy (e.g. blindness; profound behavioral disturbance, frequent convulsions; muscle twitching; cardiac failure; etc); however, for lack of a better diagnosis, the term cerebral palsy was used.
    With the development of genetic testing, we now know that a large number of these unusual presentations which were called C.P. are in fact genetic disorders which affect the child's total body metabolism, only one symptom of which is muscle spasticity and/or poor muscle coordination. There are over 100 of these genetically based metabolic disorders that generally affect many parts of the body, only one of which is the brain. They are usually relatively rare; often have occurred previously in other family members; the symptoms often increase in severity over time and can eventuate in death in childhood or adolescence. Treatments have been developed for some that serve to arrest the metabolic problem; however, many have no useful treatment available at this time.

    38. Research Fact Sheets - Genetic Disorders Of Metabolism: Cerebral Palsy, 5/2000:
    Research Fact Sheets. Research Fact Sheets general Info GeneticDisorders of Metabolism Cerebral Palsy, 5/2000. Comment In the
    http://www.ucp.org/ucp_generaldoc.cfm/1/24/24/24-6607/529
    Education Employment Housing Transportation ... Travel Your UCP: National June 09, 2004 Research Fact Sheets
    Research Fact Sheets: General Info
    Genetic Disorders of Metabolism: Cerebral Palsy, 5/2000

    Comment:
    In the not too distant past, any infant or child who had an unexplained developmental disorder that included muscle spasticity and/or unusual body movements (athetosis; dystonia) was often referred to as having cerebral palsy (CP). The children were included in the cerebral palsy category even though they had other major problems which were only sometimes associated with cerebral palsy (e.g. blindness; profound behavioral disturbance, frequent convulsions; muscle twitching; cardiac failure; etc); however, for lack of a better diagnosis, the term cerebral palsy was used.
    With the development of genetic testing, we now know that a large number of these unusual presentations which were called C.P. are in fact genetic disorders which affect the child's total body metabolism, only one symptom of which is muscle spasticity and/or poor muscle coordination. There are over 100 of these genetically based metabolic disorders that generally affect many parts of the body, only one of which is the brain. They are usually relatively rare; often have occurred previously in other family members; the symptoms often increase in severity over time and can eventuate in death in childhood or adolescence. Treatments have been developed for some that serve to arrest the metabolic problem; however, many have no useful treatment available at this time.

    39. MoSt GeNe General Information About Genetic Services
    general Information About genetic Services. genetically determined disorders accountfor a major portion of health care Referrals for a genetic Consultation
    http://www.mostgene.org/dir/genserve.htm

    40. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders
    In general, they have an accelerated aging process. Psychiatric disorders, particularlydepression, can occur and need to be Committee on Genetics.
    http://www.mostgene.org/gd/gdvol16c.htm

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