Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis
Summary
Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.
Description
In a number of families suffering of familial vocal cord paralysis it has previously been shown that the disease is inherited autosomal dominant. In one of the families the gene coding for the disease was located on chromosome 6q16. We will be analyzing 2 extended families with familial vocal cord paralysis to define their genetic defect leading to the disease. All family members will undergo a laryngoscopy to determine the extent of paralysis. For all family members we will isolate DNA and determine their microsatellite polymorphism on chromosome 6q16. If the results are negative we will continue the study and perform a whole genome scan to localize the gene(s) involved.
Study Design
Observational Model: Family-Based, Time Perspective: Prospective
Conditions
Vocal Cord Paralysis
Location
Hadassah-Hebrew University Medical Center, Mt Scopus
Jerusalem
Israel
24035
Status
Recruiting
Source
Hadassah Medical Organization
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00382369
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Vocal Cord Paralysis
Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA.
Vocal Cords
A pair of cone-shaped elastic mucous membrane projecting from the laryngeal wall and forming a narrow slit between them. Each contains a thickened free edge (vocal ligament) extending from the THYROID CARTILAGE to the ARYTENOID CARTILAGE, and a VOCAL MUSCLE that shortens or relaxes the vocal cord to control sound production.
Lateral Medullary Syndrome
INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)
Arnold-chiari Malformation
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)
Phonation
The process of producing vocal sounds by means of VOCAL CORDS vibrating in an expiratory blast of air.
Clinical Trials
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PubMed Articles
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Early versus late injection medialization for unilateral vocal cord paralysis.
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BACKGROUND: Preoperative detection of vocal cord palsy is important in thyroid and parathyroid surgery. However, routine fiberoptic laryngoscopy may bring patients unnecessary discomfort. The aim of t...
This study aimed at evaluating the results of emergent endoscopic permanent vocal cord lateralization instead of tracheotomy in patients with bilateral vocal cord paralysis who were admitted to the em...
Unilateral vocal cord paralysis associated with subdural haemorrhage in a newborn infant.
A term infant developed stridor, hoarse cry and respiratory distress after forceps-assisted delivery. Oral feeding resulted in aspiration. Flexible laryngoscopy showed a right-sided vocal cord paralys...
