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         Amyoplasia Congenita:     more detail

81. MUMS List Of Disorders - A
Multiplex congenita (19) *; Arthrogryposis Multiplex congenita, AmyoplasiaType (1); Arthrogryposis, Classic (1) *; Arthrogryposis, Distal
http://www.netnet.net/mums/mum_a.htm
Return to MUMS Home Page
MUMS:
List of Disorders
A
Number in parentheses indicates number of matches.
indicates there is a support group which covers that diagnosis.
  • 2 Hydroxic Gluteric Urea (1)
  • 2 Keto Adepic Aciduria (1)
  • 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) *
  • 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1)
  • 3 Methylglutaconic Aciduria (4)
  • 4 Hydroxybutyric Aciduria (1)
  • 5 Alpha Reductase Deficiency (1) *
  • 5 Oxoprolinuria (Pyroglutamic Aciduria) (1)
  • 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1)
  • 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) **
  • ACTH Deficiency (1)
  • AIDS (Acquired Immune Deficiency Syndrome) (6) **
  • Aarskog Syndrome (8) **
  • Abdominal Chylous Ascites (abdomen fills w/fluid) (4)
  • Abdominal Migraines (2)
  • Abdominal Teratoma Tumor (5)
  • Abetalipoproteinemia (4) *
  • Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) *
  • Absence of Arm Below Elbow, Congenital (25) *
  • Absence of Arms (Severed in accident) (2) *
  • Absence of Arms, Hands attached to shoulder (1) *
  • Absence of Extensor Tendons in hands - bilateral (1) *
  • Absence of Feet and Hands, Congenital (2) *

82. Arthrogryposis
Arthrogryposis Group (TAG), United Kingdom (UK), physiotherapy overview (.pdf)Also See Arthrogryposis multiplex congenita, I Alfonso, O Papazian, et.
http://www.kumc.edu/gec/support/arthrogr.html
Arthrogryposis
AVENUES
National Support Group for Arthrogryposis
PO Box 5192
Sonora, CA 95370 Phone: (209) 928-3688
E-mail: avenues@sonnet.com
Support groups in USA and Internationally
Arthrogryposis Group (TAG), United Kingdom (UK), physiotherapy overview (.pdf) Also See: To locate a genetic counselor or clinical geneticist in your area:

83. AMC-tauti
Kehitysvammahuollon tietopankki. Arthrogryposis Multiplex congenita GuérinSterninsyndrooma Otton syndrooma Rossin syndrooma. AMC-tauti.
http://www.saunalahti.fi/kup/syndroma/amc.htm
Kehitysvammahuollon tietopankki
Arthrogryposis Multiplex Congenita
Guérin-Sternin syndrooma
Otton syndrooma
Rossin syndrooma
AMC-tauti
Sairauden nimi, AMC, tulee englanninkielisistä sanoista Arthrogryposis Multiplex Congenita. Se tarkoittaa synnynynnäistä monioireista nivelten jäykistymäsairautta, jota kutsutaan myös Amyoplasiaksi. Taudin klassisessa muodossa esiintyy monenlaisia niveljäykistymiä ja epämuodostumia; mm. koukkusormet- ja polvet, kieroutuneet lonkat, sisäänkiertyneet olkapäät sekä virheasennossa olevat jalkaterät. Myös kitalakihalkiot, sydänviat ja muut epämuodostumat ovat yleisiä. Pahimmassa tapauksessa aivotkin ovat epämuodostuneet ja seurauksena on psyykkinen kehitysvammaisuus Tauti voi johtua raskaudenaikaisesta sikiön lihassairaudesta, äidin raskaudenaikaisesta sairaudesta tai sikiön keskushermostovauriosta. AMC-lapsia arvioidaan syntyvän suhteessa 1/3000 kaikista lapsista. Kaikista tapauksista n. 30 %:a arvioidaan perinnöllisiksi Fysioterapeuttisilla ja kirurgisilla hoidoilla voidaan huomattavasti auttaa AMC-vammaisia. Sairaus ei ole etenevä, ja se voi ilmaantua klassista taudinkuvaa lievempänä. Lisätietoja: A National Support Group for Arthrogryposis Multiplex Congenita, USA

84. Arch Pediatr Adolesc Med -- Page Not Found
Arch Pediatr Adolesc Med. 155;407408, March 2001, Picture of the Month,
http://archpedi.ama-assn.org/issues/v155n3/ffull/ppm00283-1.html
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress
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85. Roche Lexikon Medizin (4. Aufl.) - Arthrogryposis Multiplex Congenita

http://www.gesundheit.de/roche/ro00000/r2287.html
Arthro gry po sis multi plex congenita Arthromyodysplasia congenita, G *-S TERN * Syndrom engl.: congenital arthrogryposis multiplex; arthromyodysplasia
path-anat
Verwandte Themen Aase*-Smith* Syndrom Amyoplasia congenita Arthromyodysplasie Gliederstarre ... Starre

86. ELibrary.com - The Mosby Medical Encyclopedia 10-01-1996,
eLibrary is the subscription based online library for fun or research. Find out more about securing your guaranteed Free 7day trial with your credit card and retrieve 'eLibrary.com - The Mosby Medical Encyclopedia 10-01-1996, 'arthrogryposis
http://redirect-west.inktomi.com/click?u=http://ask.elibrary.com/getdoc.asp%3Fpu

87. DSHI Systems - Medical Glossary
AMPULLA OF VATER; AMPUTATION; AMPUTATIONS; AMYLASE; AMYLOIDOSIS; AMYOPLASIACONGENITA; AMYOTROPHIC LATERAL SCLEROSIS (ALS); ANA; ANA KIT;
http://www.mymedadvice.com/html/A_list.htm
  • A-TH3 ASSAY
  • A-V MALFORMATION
  • ABASIA
  • ABBOKINASE
  • A-TH3 ASSAY
  • A-V MALFORMATION
  • ABASIA
  • ABBOKINASE ...
  • AZOTEMIA
  • 88. Last Updated 15.03.2001
    BRCA1 carriers; Aetiological factors in neonatal cholestasis; AmyoplasiaCongenita Picture of the Month; Bone marrow cytogenetic
    http://www.rusmedserv.com/genetics/review/rev1503.htm
    Last Updated 15.03.2001

    89. Society For Pediatric Anesthesia
    The authors report the successful treatment of pain in an infant with amyoplasiacongenita with severe contractures and dislocated joints.
    http://www.pedsanesthesia.org/newsletter/2002winter/commentary.shtml
    Society for Pediatric Anesthesia
    Winter 2002 Newsletter
    Article Reviews and Commentary
    Acetaminophen Toxicity in Children
    Committee on Drugs Pediatrics This document is a statement from the AAP Committee on Drugs regarding unintentional acetaminophen overdosing and subsequent toxicity. There are many liaisons and consultants to the Committee on Drugs listed at the conclusion of he statement, including Dr. Cote, from the AAP Section of Anesthesiology and Pain Treatment. The paper discusses the report that a dose of 120-150 mg/kg as the minimal single acetaminophen dose associated with hepatotoxicity. Fasting is associated with increased acetaminophen toxicity in animal studies and human observations. The clinical presentation of acetaminophen toxicity has been divided into 4 phases. First, anorexia, nausea, vomiting, malaise and lethargy may actually lead to administration of additional acetaminophen. The second phase, the initial signs resolve and right upper quadrant pain and tenderness develop. Bililrubin and liver enzymes become elevated and prothrombin time is prolonged. Three to five days into the course of toxicity the third phase begins, consisting of malaise, vomiting as well as signs of hepatic failure ( hypoglycemia, jaundice, coagulopathy, encephalopathy). the fourth phase is either death or progression to recovery. Treatment with N-acetylcycteine (NAC) should begin with 6-8 hours of acetaminophen and following a dose of activated charcoal. NAC has been given PO but there are investigators using it IV. The statement concludes with recommendations to health care providers which will likely decrease the incidence of acetaminophen toxicity.

    90. Literatuur Erfelijkheid

    http://www.erfocentrum.nl/documentatie/index.php

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