81. Dysautonomie Translate this page Le syndrome de riley-day (dysautonomie familiale) qui fait partie desdysautonomies est une maladie autosomique récessive du nourrisson. http://www.vulgaris-medical.com/textd/dysauton.htm

Dysautonomie voir également neurone, neuromédiateur, dopamine, acétylcholine, sympathique (système), parasympathique (système), chorée, athétose, crampe des écrivains, torticolis spasmodique, cerveau, Parkinson (maladie de), Wilson (maladie de), botulisme, myéline, sérotonine, noradrénaline. En anglais : dystonia. Terme issu du grec dus : difficulté, et tonos : ressort. Synonyme : dystonie vagosympatique, dystonie neurovégétative. Trouble de la tension, de la tonicité. Ce désordre musculaire à type de spasme est à l'origine de contractions involontaires et douloureuses qui figent une partie ou l'ensemble du corps dans une attitude anormale. Les contractions musculaires apparaissent de façon involontaire et durent plus longtemps qu'à l'habitude, figeant la zone musculaire concernée dans une position dystonique. Quand la dystonie apparaît à l'occasion d'un mouvement bien précis, on parle de dystonie de fonction. La dysautonomie correspond à un trouble du passage de l'excitation nerveuse au niveau du nerf vague (appelé également nerf pneumogastrique). Ce nerf permet la transmission des sensations et des ordres aboutissant aux muscles à l'origine des mouvements du pharynx, de l'estomac, du larynx, du cœur, du foie et des intestins. Ceci aboutit à l'amphotonie, qui est un excès de tonicité portant sur les deux systèmes : le nerf sympathique et nerf vague. L'hypoamphotonie correspond à une hypotonie (diminution du tonus normal) de ces deux systèmes. La sympathicotonie correspond à une tonicité accrue au niveau des organes innervés par le système sympathique. La vagotonie correspond à un excès de tonicité des organes innervés par le nerf vague ou pneumogastrique.

82. Ca Se Discute - Dossier : Maladies Rares : Les Définitions Translate this page La dysautonomie familiale, dit le syndrome de riley-day Egalement connue sous lenom de syndrome de riley-day, la dysautonomie familiale fait partie du groupe http://www.casediscute.com/2002/002_maladie_rare/dossier/dossier_01.shtml

Introduction Dossier > Maladies rares : les définitions Maladies rares : les définitions La maladie de Huntington La dysautonomie familiale, dit le syndrome de Riley-Day Egalement connue sous le nom de syndrome de Riley-Day, la dysautonomie familiale fait partie du groupe des La maladie de Darier , les Les maladies dominantes se transmettent si l'un des deux parents est porteur (1 risque sur 2). Sources : Le dossier Maladies rares : les définitions Maladies rares : les caractéristiques Maladies rares : les traitements ... Sur le Web

83. Therapy Page 02 etc.) 1.8.2. Hypertension related to diffuse brain damage with quadriplegia 1.8.3.Familial dysautonomy (rileyday) 1.8.4. Guillan-Barré syndrome 1.8.5. Acute http://www.sote.hu/hypertension/the/the_002.html

Primary (essential) arterial hypertension 1.1 Hypertension developed in the young (CO and/or TPR - increase of both systolic and diastolic blood pressure; rarely: CO-dependent mild systolic hypertension in essential circulatory hyperkinetic syndrome) 1.2 Hypertension developed in the elderly (arteriosclerotic, with stiffness of large and mediate arteries systolic dominance in BP elevation greater increase in central aortic than in peripheral systolic BP) All of the above characteristics must be considered in planning of individual antihypertensive treatment. 1. Secondary hypertension 1.1. Renal hypertension Renovascular hypertension Renoparenchymal hypertension 1.1.2.1. Acute glomerulonephiritis 1.1.2.2. Chronic glomerulonephiritis 1.1.2.3. Polycystic kidney 1.1.2.4. Arteriolar nephrosclerosis 1.1.2.5. Diabetic nephropathy

84. FD Home Page Explains clinical symptoms, diagnosis, prevalence and transmission, prevention, and treatment. From the Dysautonomia Treatment and Evaluation Center. disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, Fanconi anemia A, and NiemannPick disease. http://www.med.nyu.edu/fd/fdcenter.html

Description Familial dysautonomia [ FD ] is one example of a group of disorders known as hereditary sensory and autonomic neuropathies [HSAN]. All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. The disorders are believed to be genetically distinct from each other. Unlike the other HSAN, FD has been noted only in individuals of Ashkenazi Jewish extraction and so it is included as one of the Jewish genetic diseases. Individuals affected with FD are incapable of producing overflow tears with emotional crying. Frequent manifestations of FD include inappropriate perception of heat, pain, and taste, as well as, labile blood pressures and gastrointestinal dysmotility. Other problems experienced by individuals with FD include excessive sweating, dysphagia and vomiting, aspiration and frequent pneumonia, speech and motor incoordination, labile blood pressures (episodic hypertension and postural hypotension), poor growth and scoliosis. Yet affected individuals usually are of normal intelligence. FD patients can be expected to function independently if treatment is begun early and major disabilities avoided.

85. Birth Disorder Information Directory - R Riley Day syndrome (Familial Dysautonomia, Hereditary Sensory and AutonomicNeuropathy III) List of Sites Riley Smith syndrome See http://www.bdid.com/defectr.htm

HOME R Rachischisis Rachischisis of the Spinal Cord Neural Tube defects - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis and Encephalocele - Pediatric Pathology (Includes a Photo) Radiodigitofacial Dysplasia See Van Goethem Syndrome Radioreno-Ocular Syndrome See Acrorenoocular Syndrome Ramer Ladda Syndrome (Brachydactyly Deafness Skeletal Anomalies) brachydactyly deafness skeletal anomalies Ramon Syndrome (Cherubism Gingival Fibromatosis Mental Retardation) Cherubism gingival fibromatosis mental retardation RAMON SYNDROME Ramos Arroyo Clark Syndrome (Corneal Anesthesia Deafness Mental Retardation) Corneal anesthesia deafness mental retardation Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Rapp Hodgkin Syndrome (Ectodermal Dysplasia, Anhidrotic, with Cleft Lip and Cleft Palate) ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE Reardon Wilson Cavanagh Syndrome (Ataxia and Deafness, Reardon Type; A taxia- D eafness- R etardation [ ADR ] Syndrome) Ataxia deafness reardon type ATAXIA-DEAFNESS-RETARDATION SYNDROME Also see Red Hair Color Red Hair Color (Hair Color 2) HAIR COLOR 2; HCL2

86. ATE Responses I have read the complete MDA Ask the Experts' Disclaimer, understand and agreeto its terms. SUBJ (10/01) SMA AND DYSAUTONOMIA (RILEY DAY syndrome). http://www.mdausa.org/experts/question.cfm?id=1085

87. ATE Responses 2002 Permanent Ventilation Scoliosis Bracing Preventing Recurrent Bacterial InfectionsOctober 2001 SMA and Dysautonomia (Riley Day syndrome) September 1999 http://www.mdausa.org/experts/responses.cfm?id=70

88. Riley – Day Syndrome one click For Medical Professionals only. Riley – day syndrome,,Print this article, (Conrad Milton Riley, 20th century, American http://www.amershamhealth.com/medcyclopaedia/Volume III 1/RILEY DAY SYNDROME.as

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 Riley – day syndrome, (Conrad Milton Riley, 20th century, American physician and Richard Lawrence Day, 20th century, American paediatrician), type III hereditary sensory and autonomic neuropathy; also known as familial dysautonomia. This disease occurs primarily in Jewish children, who manifest neuropathic osteoarthropathy , abnormalities of spinal curvature, osteomyelitis , and ischaemic necrosis of bone, in addition to clinical signs and symptoms. In some patients, large portions of the articular surface of the femoral head, femoral condyles and tarsus may disintegrate, with resulting subluxations. DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia.

89. Riley – Day Syndrome Riley – day syndrome,, Print this article, (Conrad Milton Riley, 20thcentury, American physician; Richard Lawrence Day, 20th century http://www.amershamhealth.com/medcyclopaedia/Volume VII/Riley Day syndrome.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 Riley – day syndrome, (Conrad Milton Riley, 20th century, American physician; Richard Lawrence Day, 20th century, American paediatrician), dysautonomia associated with emotional lability and motor incoordination. The inheritance is autosomal recessive. Radiologically, children often have incoordination of swallowing with frequent tracheal aspiration of food. There may in addition be a megacolon, non-specific small bowel dysmotility disorders and extensive areas of pulmonary consolidation secondary to the repeated aspiration. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia.

90. GASNet Anesthesiology: Contents D - G Day. Riley Day syndrome (Familial Dysautonomia). Degos. Dysautonomia.Riley - Day syndrome (Familial Dysautonomia). Dystrophic Epidermolysis. http://gasnet.med.yale.edu/pediatric-syndromes/d2g_br.php

Contents D - G - pediatric syndromes - Dandy Dandy - Walker Syndrome Danlos Ehlers - Danlos Syndrome Day Riley - Day Syndrome (Familial Dysautonomia) Degos Köhlmeier - Degos Disease (Malignant Atrophic Papulosis) Denborough King - Denborough Syndrome Dermal Hypoplasia Corlin - Goltz Syndrome (Focal Dermal Hypoplasia) Diamond Blackfan - Diamond Syndrome DiGeorge DiGeorge Syndrome Disseminated Histiocytosis Letterer - Siwe Disease (Acute Disseminated Histiocytosis) Down Down Syndrome (Trisomy 21) Drager Shy - Drager Syndrome Duchenne Duchenne Muscular Dystrophy Dwarfism Dwarfism (Osteochondrodystrophies) Dysautonomia Riley - Day Syndrome (Familial Dysautonomia) Dystrophic Epidermolysis Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) Ebstein Ebstein's Anomaly Ectodermal Dysplasia Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Edward Edward's Syndrome (Trisomy 18) EEC EEC Syndrome Ehlers Ehlers - Danlos Syndrome Eisenmenger Eisenmenger Syndrome Epidermal Necrolysis Lyell Disease (Toxic Epidermal Necrolysis) Epidermolysis Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) Epidermolysis bullosa Epidermolysis Bullosa Erythema Erythema Multiforme Major (Stevens - Johnson Syndrome) Erythrodermia Ichtyosiform Erythrodermia (Harlequin fetus) Eulenberg Paramyotonia Congenita (Eulenberg Syndrome) Fabry Fabry's Disease (Lysosomal Storage Disease) Familial Familial Periodic Paralysis Fanconi Fanconi's Syndrome (Renal Tubular Acidosis) Farber Farber's Disease Favism Favism Fazio Fazio - Londe Syndrome Feil Klippel - Feil Syndrome Fragile X

91. Skeletal Charcot. Uruguay FacioCardio-Musculo-Skeletal syndrome 2. l X-linked;Recessive Skeletal Scheie syndrome 4. l a-L-iduronidase; Chromosome http://www.neuro.wustl.edu/neuromuscular/nother/skel.html

Front Search Index Links ... Patient Info NEUROMUSCULAR + SKELETAL DISORDERS Myopathy Hereditary Progressive Diaphyseal Dysplasia (Camurati-Engelmann) Epiphyseal dysplasia (EDM3): Collagen IXa3; 20q13 Uruguay Facio-Cardio-Musculo-Skeletal Syndrome Myhre syndrome Myotonic dystrophy Flier's syndrome ... Tel Hashomer camptodactyly syndrome Acquired Congenital hypothyroidism Vitamin D deficiency Neuropathy CMT 4C Goldberg-Shprintzen Motor neuronopathy with cataracts and skeletal abnormalities Myeloma ... Schwartz-Jampel Other Adolescent idiopathic scoliosis : Chromosome 19p13.3; Dominant Neurogenic Osteoarthropathies (Charcot's joints) Definition Progressive, destructive arthropathy Location: Region of sensory loss Causes: Repeated trauma to anesthetic limb Associated disorders Nerve disorders Infections Leprosy Tabes dorsalis : Knee Amyloidosis Diabetic neuropathy : Most common cause; Foot Alcohol-related neuropathy (Rare) Hereditary Congenital insensitivity to pain HSAN: 3 (Riley-Day) CMT 2B Recessive axonal CMT with acrodystrophy Hereditary Sensory-Motor Neuropathy with Ulcero-mutilation Local nerve injuries Spinal disorders Syringomyelia : Elbow Injuries Chronic disorders: Multiple sclerosis Congenital: Spina bifida, Meningomyelocele

92. MEDLINEplus Medical Encyclopedia: Hypotonia Hypotonia. http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Hypotonia Contents of this page: Illustrations Alternative names Definition Considerations ... What to expect at your health care provider's office Illustrations Hypotonia Central nervous system Alternative names Return to top Floppy; Decreased muscle tone; Hypotonic infant Definition Return to top Hypotonia involves decreased muscle tone. Infants with hypotonia seem floppy and feel like a "rag doll" does when held. Considerations Return to top Hypotonia is often a sign of a worrisome abnormality and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorders. Hypotonic infants rest with their elbows and knees loosely extended, while infants with normal tone tend to have flexed elbows and knees. Head control may be poor or absent in the floppy infant with the head falling to the side, backward, or forward. Infants with normal tone can be lifted with the parent's hands placed under the armpits, while hypotonic infants tend to slip between the hands as the infant's arms rise unresistingly upward. Common Causes Return to top Down syndrome myasthenia gravis Prader-Willi syndrome ... cerebellar ataxia , congenital Werdnig- Hoffman myotonic dystrophy infant botulism familial dysautonomia Riley-Day syndrome ... Krabbe disease Menkes syndrome metachromatic leukodystrophy methylmalonic acidemia rickets spinal muscular atrophy type 1 ... vaccine reaction Home Care Return to top Extra care must be taken when lifting and carrying a hypotonic infant to avoid causing an injury to the child.

93. Avera Health - Hypotonia Hypotonia. Definition Hypotonia involves decreased muscle tone. Infantswith hypotonia seem floppy and feel like a rag doll does when held. http://www.avera.org/adam/ency/article/003298.htm

Disease Injury Nutrition Poison ... Central nervous system Hypotonia Definition: Hypotonia involves decreased muscle tone. Infants with hypotonia seem floppy and feel like a "rag doll" does when held. Alternative Names: Floppy; Decreased muscle tone; Hypotonic infant Considerations: Hypotonia is often a sign of a worrisome abnormality and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorders. Hypotonic infants rest with their elbows and knees loosely extended, while infants with normal tone tend to have flexed elbows and knees. Head control may be poor or absent in the floppy infant with the head falling to the side, backward, or forward. Infants with normal tone can be lifted with the parent's hands placed under the armpits, while hypotonic infants tend to slip between the hands as the infant's arms rise unresistingly upward. Common Causes: Down syndrome myasthenia gravis Prader-Willi syndrome Kernicterus ... cerebellar ataxia , congenital Werdnig- Hoffman myotonic dystrophy infant botulism familial dysautonomia Riley-Day syndrome ... Krabbe disease Menkes syndrome metachromatic leukodystrophy methylmalonic acidemia rickets spinal muscular atrophy type 1 ... vaccine reaction Home Care: Extra care must be taken when lifting and carrying a hypotonic infant to avoid causing an injury to the child.

94. Health Library Find Information On Hypotonia At MerckSource Powered by ADAM, Inc. Return to Main Index. http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

95. Subject Topics to Thrive Fainting Fall Familial Dysautonomia/RileyDaySyndrome ? Familial Dysbetalipoproteinemia http://www.kingdoctor.com/cgi-bin/showtopic.asp?topic=F

96. History Programs And Accomplishments The result in 1949 was the identification and description of the RileyDaySyndrome - now known as Familial Dysautonomia (FD). A http://www.familialdysautonomia.org/accompl.htm

Dysautonomia Foundation Inc - History, Programs and Accomplishments The Dysautonomia Foundation was started in 1951 by a handful of parents whose infants had presented Drs. Conrad M. Riley and R. L. Day with some of their most puzzling cases. The result in 1949 was the identification and description of the Riley-Day Syndrome - now known as Familial Dysautonomia (FD). A concentrated effort was undertaken to awaken both public interest and that of the medical and scientific community to this strange and baffling disorder that appeared to afflict Jewish children of Eastern European background, and fund raising activities were initiated to promote research into its mysteries. As a result of research sponsored over the years by the Foundation at leading institutions, many important discoveries have been made. These include the initial breakthrough by Drs. Joseph Dancis and the late Alfred A. Smith in diagnosing dysautonomic children by their lack of taste buds; and the discovery of a histamine skin test to determine at birth if a child is afflicted with the disease. 1970 marked the start of a Pediatric Clinic at NYU's University Hospital as a treatment and evaluation center for dysautonomia patients from all over the world. In 1990, the Dysautonomia Foundation established a laboratory at Massachusetts General Hospital (Harvard), for the express purpose of identifying the gene for FD. Through the efforts of Dr. James Gusella, Director of the Laboratory of Neurogenetics, and a superb team of researchers led by Susan A. Slaugenhaupt, Ph.D., exciting strides have been made. The approximate location of the gene (between flanking markers) was identified and narrowed so that "families at risk" could have a prenatal test to see whether the fetus was affected with FD or not. To date there have been 75 healthy babies born all unaffected with FD as predicted. AND NOW, FINALLY, WITH THE IDENTIFICATION OF THE FD GENE, THERE IS A CARRIER TEST FOR THE ENTIRE JEWISH POPULATION!

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-96 of 96    Back | 1  | 2  | 3  | 4  | 5