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
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;