NIH Clinical Research Studies

Protocol Number: 05-N-0189

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Title:
Neuropathological Basis of Spasmodic Dysphonia and Related Voice Disorders
Number:
05-N-0189
Summary:
This study will look for abnormalities in a brain of persons affected with spasmodic dysphonia, a form of movement disorder that involves involuntary "spasms" of the muscles in the vocal folds causing breaks of speech and affecting voice quality. The causes of this disorder are not known. The study will compare results of magnetic resonance imaging (MRI) in people with spasmodic dysphonia and in healthy volunteers.

People with adductor or abductor spasmodic dysphonia and healthy volunteers may be eligible for this study. Candidates are screened with a medical history, physical examination, and a test called nasolaryngoscopy. For this test, the inside of the subject's nose is sprayed with a decongestant, and a small, flexible tube called a nasolaryngoscope is passed through the nose to the back of the throat to allow examination of the larynx (voice box). During this procedure, the subject is asked to perform tasks such as talking, singing, whistling, and saying prolonged vowels. The nasolaryngoscope is connected to a camera to record the movements of the vocal folds during these tasks.

Eligible participants then undergo MRI of the brain. MRI uses a strong magnetic field and radio waves instead of x-rays to obtain images of body organs and tissues. For this test, the subject lies on a table that slides into the MRI scanner, a narrow metal cylinder, wearing ear plugs to muffle loud knocking sound that occurs during the scan. During MRI anatomical images of the brain are obtained. Subject may be asked to participate in up to two scanning sessions. Each session takes about 1-1/2 hours.

Participants may also be asked to volunteer for a brain donation program which is optional. Information gained from donated tissue may lead to better treatments and potential cures for spasmodic dysphonia.

Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Participants currently recruited/enrolled
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): Children

Eligibility Criteria:
INCLUSION CRITERIA:

Healthy research volunteers and patients with SD, MTD, and VT from 21 years of age will be eligible for the study.

SD PATIENTS:

- A diagnosis of adductor or abductor SD will be based on voice testing and fiberoptic nasolaryngoscopy conducted during the initial interview by an otolaryngologist and speech-language pathologist according to following criteria:

a. Intermittent strained hoarseness, uncontrolled voice breaks or changes in pitch during vowels, liquids (r & l), semivowels (w & y), during speech are present in adductor SD, or

b. Prolonged voiceless consonants producing breathy breaks are present in abductor SD,

c. Less prominent symptoms during whisper, singing or falsetto,

d. Normal voice and vocal fold movement for protective and emotional laryngeal function, such as cough, laugh or cry.

- Postmortem brain and larynx tissue from SD patients deceased from other than neurological, psychiatric, laryngological causes which would not affect our study as determined by medical history.

MTD PATIENTS:

- Increased phonatory muscle tension in the paralaryngeal and suprahyoid muscles on palpation;

- A consistent hypertonic laryngeal posture for phonation, such as either an anterior-posterior squeeze (pin-hole posture) or ventricular hyperadduction and an absence of SD or vocal tremor as determined by a Speech-Language Pathologist and the staff otolaryngologist;

- Exclusion of other laryngeal pathologies based on a fiberoptic nasolaryngoscopic examination conducted during the initial interview by the staff otolaryngologist.

VT PATIENTS:

- Vocal tremor during vocalization that primarily involves laryngeal structures;

- Exclusion of other laryngeal pathologies based on a fiberoptic nasolaryngoscopic examination conducted during the initial interview by the staff otolaryngologist.

CONTROLS:

- Normal vocal function refers to normal voice quality with a negative history of voice or laryngeal disorders.

- Research volunteers without neurological, psychiatric, otolaryngological problems as determined by medical history and examination by a physician.

EXCLUSION CRITERIA:

- Pregnant women will be excluded from the study until a time when they are no longer pregnant.

- Any individual with a medical history or postmortem diagnoses of one or more of the following contraindications will be excluded from the study:

SD, MTD, AND VT PATIENTS:

- Other laryngeal pathologies as determined by medical history and fiberoptic nasolaryngoscopic examination conducted during the initial screening by the otolaryngologist and speech-language pathologist, such as:

1. Vocal fold paralysis, paresis, joint abnormality, or neoplasm;

2. Vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or chronic laryngitis;

3. Swallowing problems; airway obstruction

- Speech problems as determined by medical history and examination by the otolaryngologist and speech-language pathologist.

- Neurological diseases and disorders such as stroke affecting the brain regions of interest, movement disorders (e.g., Huntington disease, chorea, myoclonus, Gilles de la Tourette syndrome, Parkinson's disease, progressive supranuclear palsy, and neuroleptic-induced syndromes), brain tumors, traumatic brain injury with loss of consciousness, genetic diseases of the CNS, chronic infections of the nervous system, ataxias, myopathies, myasthenia gravis, demyelinating diseases, epilepsy, alcoholism, and drug dependence.

- Psychiatric diseases and disorders such as schizophrenia, major and/or bipolar depression, and obsessive-compulsive disorder.

CONTROLS:

- Laryngeal pathologies as determined by medical history and fiberoptic nasolaryngoscopic examination conducted during the initial screening by the otolaryngologist and speech-language pathologist, such as:

1. Spasmodic dysphonia, muscular tension dysphonia, voice tremor;

2. Vocal fold paralysis, paresis, joint abnormality, or neoplasm;

3. Vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or chronic laryngitis;

4. Swallowing problems;

- Speech problems as determined by medical history and examination by the otolaryngologist and a speech-language pathologist.

- Neurological diseases and disorders such as stroke affecting the brain regions of interest, movement disorders (e.g., Huntington disease, chorea, myoclonus, Gilles de la Tourette syndrome, essential tremor, Parkinson's disease, progressive supranuclear palsy, and neuroleptic-induced syndromes), tumors involving the brain region of interest, genetic diseases of the CNS, traumatic brain injury with loss of consciousness chronic infections of the nervous system, ataxias, myopathies, myasthenia gravis, demyelinating diseases, epilepsy, alcoholism, and drug dependence.

- Psychiatric diseases and disorders such as schizophrenia, major and/or bipolar depression, and obsessive-compulsive disorder.

Special Instructions:
Currently Not Provided
Keywords:
Neuroanatomy
Brain Damage
Dystonia
Pathology
Brain Imaging
Recruitment Keyword(s):
Spasmodic Dysphonia
SD
Focal Dystonia
Healthy Volunteer
HV
Condition(s):
Voice Disorders
Investigational Drug(s):
None
Investigational Device(s):
None
Intervention(s):
None
Supporting Site:
National Institute of Neurological Disorders and Stroke

Contact(s):
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):
Altschuler SM, Bao XM, Bieger D, Hopkins DA, Miselis RR. Viscerotopic representation of the upper alimentary tract in the rat: sensory ganglia and nuclei of the solitary and spinal trigeminal tracts. J Comp Neurol. 1989 May 8;283(2):248-68.

Aminoff MJ, Dedo HH, Izdebski K. Clinical aspects of spasmodic dysphonia. J Neurol Neurosurg Psychiatry. 1978 Apr;41(4):361-5.

Aronson AE, Lagerlund TD. Neuroimaging studies do not prove the existence of brain abnormalities in spastic (spasmodic) dysphonia. J Speech Hear Res. 1991 Aug;34(4):801-11. No abstract available.

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