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Characteristics of Idiopathic Familial Voice Disorders

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Laryngeal Disease, Spastic Dysphonia, Voice Disorder

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Trial Information

Characteristics of Idiopathic Familial Voice Disorders


Our purpose is to examine for evidence of genetic risk factors associated with idiopathic
laryngeal motor control disorders. During the conception of the protocol, we were
interested in investigating the pattern of inheritance of familial voice disorders,
specifically spasmodic dysphonia and tremor. Interestingly, the initial search for families
revealed several large families with idiopathic vocal fold paralysis with some family
members experiencing symptoms of spasmodic dysphonia. During subsequent years, the research
has focused on inherited forms of vocal fold paralysis in an attempt to determine the
relationship between the laryngeal motor control disorder and other associated neuropathies,
and to determine the existence of a specific genetic abnormality. These idiopathic
laryngeal motor control disorders were one manifestation of peripheral neuropathies or may
be an isolated disorder with only laryngeal involvement. Subsequently, we have shifted our
emphasis back to the identification of genetic risk factors for spasmodic dysphonia.

Hypothesis 1) Familial risk factors for spasmodic dysphonia result in a particular phenotype
and genotype.

Hypothesis 2) Environmental risk factors may differentiate between affected and unaffected
members of families with spasmodic dysphonia.

Hypothesis 3) Whole genome screening will identify SNPs associated with the occurrence of
spasmodic dysphonia.


Families with multiple members affected with spasmodic dysphonia, vocal fold paralysis, and
tremor will be ascertained.


A pedigree will be developed via a questionnaire and voice history. Affected and unaffected
family members will be examined to determine the presence and extent of their laryngeal
motor control disorder. Affected family members will also undergo neurological examination
and nerve and muscle studies to determine the loci of their pathology. A genotype will be
developed for affected and unaffected family members, through DNA testing of blood samples.


This is a natural history study characterizing the phenotype and genotype of idiopathic
laryngeal motor control disorders.

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.


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.

Type of Study:


Study Design:



United States: Federal Government

Study ID:




Start Date:

May 1996

Completion Date:

Related Keywords:

  • Laryngeal Disease
  • Spastic Dysphonia
  • Voice Disorder
  • Spasmodic Dysphonia
  • Pedigree
  • Vocal Fold Paralysis
  • Voice Disorder
  • Laryngeal Diseases
  • Voice Disorders
  • Dysphonia



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892
University of Iowa Iowa City, Iowa  52242