Extractions: Protocol Number: 96-N-0089 Characteristics of Idiopathic Familial Voice Disorders 96-N-0089 The purpose the study is to determine the genetic causes of specific voice disorders that run in families. Researchers are particularly interested in two conditions; 1. Spasmodic dysphonia 2. Vocal fold paralysis Familial vocal fold paralysis can be a life-threatening disorder that can cause difficulty with vocal fold movement for breathing and voice and sometimes for swallowing. Studies are ongoing at the NIH to better understand the pathophysiology and to relate it to the genetic pattern of inheritance. Families are being recruited to participate in these studies and are being provided with further information on the disorder and genetic counseling if desired. Physician referral is requested for affected members of families with vocal fold paralysis of an unknown cause occurring over at least 2 generations. All travel, lodging, examination and counseling costs are covered for both affected and unaffected members of a family. Examinations include: voice, laryngeal, neurological, electrodiagnostic testing, genetic counseling, and radiological studies. Referral Letter Required: Yes Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Symptoms present during speech and not apparent at rest
Nature Publishing Group PubMed ISI ; WorsterDrought, C., Greenfield, JG McMenemey, WH A form offamilial presenile dementia with spastic paralysis (including the pathological http://www.nature.com/cgi-taf/DynaPage.taf?file=/neuro/journal/v2/n11/full/nn119
VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE HEREDITARY spastic PARAPLEGIA HSP familial spastic PARAPLEGIA FSP familial spasticPARALYSIS familial spastic PARAPARESIS STRUMPELLLORRAIN SYNDROME. http://www.vada.nl/medisch/medheh.htm
Linkage.rockefeller.edu/wli/omim/x_unknown.txt GLAUCOMA; IHG 308600 JAUNDICE, familial OBSTRUCTIVE, OF KALLMANN SYNDROME WITH SPASTICPARAPLEGIA 308830 308850 LARYNGEAL ABDUCTOR paralysis 308905 LEBER http://linkage.rockefeller.edu/wli/omim/x_unknown.txt
Extractions: 300004 : CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY 300042 : ALOPECIA, CONGENITAL 300054 : BODY LENGTH, MOUSE, HUMAN HOMOLOG 300055 : MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM 300058 : PEM HOMEO BOX GENE, HUMAN HOMOLOG OF 300062 : MENTAL RETARDATION, X-LINKED 14; MRX14 300063 : IMMUNE DYSREGULATION, NEONATAL INSULIN-DEPENDENT DIABETES, AND DIARRHEA, X-LINKED RECESSIVE 300064 : MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM 300073 : FETAL AKINESIA SYNDROME, X-LINKED 300074 : X CHROMOSOME-CONTROLLING ELEMENT Xce, MOUSE, HOMOLOG OF 300106 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED 300129 : HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF 300148 : MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO 300154 : EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF 300166 : OCULOFACIOCARDIODENTAL SYNDROME 300184 : HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAIN STEM RESPONSES 300270 : ADRENOMYODYSTROPHY 300650 : ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD 300800 : ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO 300900 : ALCOHOLISM 301090 : AMELIA, X-LINKED 301410 : ANENCEPHALYSPINA BIFIDA 301590 : ANOPHTHALMOS, CLINICAL; ANOP1 301700 : ANOSMIA 301790 : ATAXIA-DEAFNESS SYNDROME, X-LINKED 301800 : ANUS, IMPERFORATE 301815 : ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY 301840 : ATAXIA-DEMENTIA SYNDROME 301850 : TUBULIN, BETA 301880 : BONE MORPHOGENETIC PROTEIN 2B2 301940 : BRACHYDACTYLY, MONONEN TYPE 301950 : BRANCHIAL ARCH SYNDROME, X-LINKED 302030 : CALVARIAL HYPEROSTOSIS 302300 : CATARACT, CONGENITAL, WITH MICROCORNEA OR SLIGHT MICROPHTHALMIA 302380 : CATEL-MANZKE SYNDROME 302400 : CENTRAL INCISORS, ABSENCE OF 302700 : CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE 302803 : CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA 302900 : CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED 302905 : CHARGE-LIKE SYNDROME, X-LINKED 303110 : CHOROIDEREMIA WITH DEAFNESS AND OBESITY 303650 : COLONIC ATRESIA 304000 : COLORBLINDNESS, PARTIAL TRITANOMALY 304030 : CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN 304120 : CRANIOORODIGITAL SYNDROME 304200 : CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION 304300 : CYANIDE, INABILITY TO SMELL 304350 : DEAFNESS-HYPOGONADISM SYNDROME; DHS 304600 : DEAFNESS, HIGH-TONE NEURAL 304790 : DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA 304930 : DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME, X-LINKED 304950 : DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED 304990 : DYSCHONDROSTEOSIS, X-LINKED PSEUDOAUTOSOMAL 305050 : DYSTONIA-DEAFNESS SYNDROME 305300 : ENDOCARDIAL FIBROELASTOSIS 305350 : EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2 305425 : FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5 305550 : FINGERPRINT BODY MYOPATHY 305645 : FRONTONASAL DYSPLASIA 305650 : GANGLIOSIDOSIS, GM3 305690 : GENITOURINARY TRACT ANOMALIES 305700 : GERMINAL CELL APLASIA 305800 : GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY 305920 : GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE 306300 : GRANULOMAS, CONGENITAL CEREBRAL 306500 : GYNECOMASTIA, FAMILIAL 306800 : HEMOPHILIA A WITH VASCULAR ABNORMALITY 306930 : HEMOPOIETIC PROLIFERATION 306950 : HERNIA, ANTERIOR DIAPHRAGMATIC 306960 : HHHH SYNDROME 306970 : H-Y REGULATOR; HYR 306980 : HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY 306990 : HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE 306995 : HOMOSEXUALITY 1; HMS1 307010 : HYDROCEPHALUS WITH CEREBELLAR AGENESIS 307300 : HYPOGONADISM, MALE 307500 : HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES 307830 : HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION 308050 : ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS 308200 : ICHTHYOSIS AND MALE HYPOGONADISM 308205 : ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME 308210 : IMMUNODEFICIENCY, T-CELL TYPE 308220 : IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN 308280 : IMPACTED TEETH, MULTIPLE 308290 : IMPRINTING GENE RELATED TO RETINOBLASTOMA 308400 : INTRAUTERINE GROWTH RETARDATION, MICROCEPHALY, AND MENTAL RETARDATION 308500 : IRIS, HYPOPLASIA OF, WITH GLAUCOMA; IHG 308600 : JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY 308750 : KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA 308830 : KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY 308850 : LARYNGEAL ABDUCTOR PARALYSIS 308905 : LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO 308930 : LEIGH SYNDROME, X-LINKED 308950 : LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT 308960 : LEUKEMIA, ACUTE, ?X-LINKED 308990 : LOW MOLECULAR WEIGHT PROTEINURIA, ASYMPTOMATIC; LMWP 309120 : MALE INFERTILITY FROM DEFECT IN MEIOSIS 309350 : MELNICK-NEEDLES OSTEODYSPLASTY 309480 : MENTAL RETARDATION ASSOCIATED WITH PSORIASIS 309490 : MENTAL RETARDATION WITH DISTINCTIVE MOUTH, OBESITY, AND HYPOGONADISM 309549 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 9; MRX9 309560 : MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS 309580 : MENTAL RETARDATION, SMITH-FINEMAN-MYERS TYPE 309640 : MENTAL RETARDATION WITH SPASTIC PARAPLEGIA 309645 : METAPHYSEAL ANADYSPLASIA 309660 : MENTAL RETARDATION, SCAPULOPERONEAL MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY 309700 : MICROPHTHALMIA 309840 : MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS 309930 : MUSCULAR DYSTROPHY, CARDIAC TYPE 309950 : MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE 310000 : MUSCULAR DYSTROPHY, MABRY TYPE 310095 : MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL 310350 : MYELOLYMPHATIC INSUFFICIENCY 310370 : MYOCLONIC EPILEPSY, PROGRESSIVE 310450 : MYOPATHY, QUADRICEPS 310465 : N SYNDROME; NSX 310470 : NEUROPATHY, HEREDITARY SENSORY, X-LINKED 310650 : NUCLEAR RIBONUCLEIC ACID; nRNA 310800 : NYSTAGMUS, MYOCLONIC 310900 : OCCIPITAL HAIR, WHITE LOCK OF 310980 : OMPHALOCELE 311070 : OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS 311100 : OPTIC ATROPHYSPASTIC PARAPLEGIA SYNDROME 311280 : OSTEOPATHIA STRIATA WITH PIGMENTARY DERMOPATHY INCLUDING WHITE FORELOCK 311350 : OUABAIN RESISTANCE; OUBR 311400 : PAINE SYNDROME 311450 : PALLISTER W SYNDROME 311601 : PELIZAEUS-MERZBACHER-LIKE DISEASE; PMLD 311700 : PERIODIC PARALYSIS, FAMILIAL 311750 : PERIODONTOSIS 311895 : PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES 311900 : PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT 312030 : PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN, X-LINKED; B1G2; SP1X 312100 : PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I 312150 : PTERYGIUM SYNDROME, X-LINKED 312190 : RADIAL APLASIA, X-LINKED 312200 : RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER 312210 : RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY 312400 : RENAL TUBULAR ACIDOSIS II 312450 : RESPIRATION DEFICIENCY 312530 : RETINAL DETACHMENT 312550 : RETINAL DYSPLASIA, PRIMARY; PRD 312612 : RETINITIS PIGMENTOSA 6; RP6 312750 : RETT SYNDROME; RTT 312780 : RUSSELL-SILVER SYNDROME, X-LINKED 312800 : SACRAL DEFECT WITH ANTERIOR SACRAL MENINGOCELE 312830 : SCARF SYNDROME 312840 : SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME 312860 : SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION 312890 : SPASTIC ATHETOTIC PARAPLEGIA 312910 : SPASTIC PARAPARESIS AND DEAFNESS 313000 : SPATIAL VISUALIZATION, APTITUDE FOR 313100 : SPIEGLER-BROOKE TUMORS 313460 : SURFACE ANTIGEN, X-LINKED, SECOND; SAX2 313490 : TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS 313550 : TEETH, BURIED 314000 : THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE 314100 : THUMBS, CONGENITAL CLASPED 314240 : TOOTH SIZE 314320 : TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY 314350 : TYROSINE AMINOTRANSFERASE, REGULATOR OF 314360 : ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET 314550 : VESICOURETERAL REFLUX; VUR 314560 : VON WILLEBRAND DISEASE, X-LINKED FORM 314570 : WIDOW'S PEAK SYNDROME 314600 : WILDERVANCK SYNDROME 314800 : XH ANTIGEN 314920 : XP24 314940 : XP37 314960 : XP40 315000 : ZONULAR CATARACT AND NYSTAGMUS
AD HOC BIBLIO - INDEX SUJETS LETTRE P Compilé Le 14/01/03 Report Nondystrophic myotonias and periodic paralysis. Sensory neuropathy in hereditaryspastic paraplegia .a polyhandicap et accompagnement familial .m http://www.cidg.com/~marienf/k/i/mid3p.htm
Extractions: P Physiopathologie... Pathophysiologic basis of muscle pain syndromes: an update.... [m] Pathophysiology of gait in children with cerebral palsy.... [a] Pathophysiology of mild-head injury .... [m] Pathophysiology of Myasthenia Gravis and Lambert-Eaton Syndrome.... [m] Pathophysiology of spasticity.... [a] Pediatric Spinal Cord Injury Issues : Etiology, Demographics and Pathophysiology... [a] Pediatric Syringomyelia.... [a] [a] Physiological and perceptual features of dysarthria in Moebius Syndrome : direct... [a] Physiology and pathophysiology of the swallowing area of human motor cortex... [a] Physiopathologie de l'insufisance ventilatoire d'origine neuro-musculaire .... [a] Physiopathologie du diaphragme.... [a] Posterior Fossa abnormalities in children with infantile spasms.... [a] Prolonged mechanical ventilation in children.... [m] Some aspects of the humoral and neutrophil functions in post-comatose unawarenes... [a] Spasticity management : An overview.... [a] Status epilepticus in children: update and review.... [a] Stiffness, spasticity, or both : A case report of Stiff-Person Syndrome...
VI: Degenerative Diseases Of The CNS FRIEDREICH'S ATAXIA. Gait ataxia, dysarthria, sensory impairment, late spasticparalysis. familial (most cases of SCA1 and SCA2) and sporadic forms exist. http://www.borg.labmed.umn.edu/PathClass/5102/neuro/clark6.html
Extractions: Back Home Next VI. DEGENERATIVE DISEASES OF THE NERVOUS SYSTEM CHARACTERISTISTIC FEATURES Diseases of neurons Precocious or premature dysfunction and death of neurons Neuronal loss often is made evident by the presence of reactive gliosis - Frequently systematic or regional involvement, usually symmetric - Slowly and steadily progressive - Heredofamilial or sporadic - Uncertain etiology in most cases DISEASES WHICH MAINLY AFFECT THE CEREBRAL CORTEX : DEMENTIAS ALZHEIMER'S DISEASE (presenile dementia and senile dementia of the Alzheimer type): Most common neurodegenerative disease: majority of all dementia in the elderly Some cases are familial, several gene linkages have been identified [Apolipoprotein E; b- Amyloid precursor protein (APP); "presenilin" genes on chromosomes 1 and 14] - Clinical course: 5-10+ years Pathology: - Diffuse atrophy of cerebral gyri and reduced brain weight in most patients but some have relatively little gross atrophy - Widespread senile plaques in cerebral cortex; often most severe in the temporal lobe;
AnsMe Directory - Health > Conditions And Diseases > F familial Hypercholesterolemia. familial Mediterranean Fever. familial SpasticParalysis. Fanconi Anemia. Farsightedness. Fatigue Syndrome, Chronic. http://dir.ansme.com/health/43348.html
