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.

Condition
Laryngeal Disease Spastic Dysphonia Voice Disorder

The purpose of this protocol was to determine if there was evidence of a genetic risk factor involved in spasmodic dysphonia. Families with multiple members affected with spasmodic dysphonia were ascertained. The following hypotheses are being addressed:

1. Spasmodic dysphonia rarely occurs in families and is unrelated to idiopathic torsion dystonia.

2. Families with spasmodic dysphonia have occurrences of other laryngeal control disorders.

3. Familial vocal fold paralysis is associated with neuropathy or neuronopathies.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

INCLUSION CRITERIA:
Symptoms present during speech and not apparent at rest,
Symptoms less evident during whisper, singing or falsetto.
Symptoms become worse with prolonged speaking, practice or anxiety.
Reflexive and emotional aspects of voice function are unaffected, such as coughing, laughter or crying.
EXCLUSION CRITERIA:
Any patient with a history of airway obstruction will be excluded from the study. Structural abnormalities affecting the larynx such as vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or inflammation (laryngitis).
Reduction in vocal fold movement range during non-speech tasks such as whistling which would suggest either paralysis or paresis, joint abnormality or neoplasm.
No smokers or tobacco users will be included in the study.
Subjects with history of a psychiatric disorder, under the care of a psychiatrist, or on medications for treatment of a psychiatric disorder will be excluded from the study. Examples of psychiatric disorders to be excluded are: somatoform disorders, conversion disorders, currently under treatment for a major depression, or a history of schizophrenia or a bipolar disorder. However, a history of a previous episode of a minor reactive depression would not exclude a person from participation.

Maryland
      National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  960089; 96-N-0089
Record last reviewed:  May 6, 2004
Last Updated:  May 6, 2004
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001552
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08