Neuropathology of Spasmodic Dysphonia

NCT00118586 | Completed

• 2 other identifiers: 05018905-N-0189
• Study Type: observational
• Target: 97
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Voice Disorders; Spasmodic Dysphonia; Healthy; Movement Disorder; Focal Dystonia

Keywords

Neuroanatomy; Brain Damage; Dystonia; Pathology; Brain Imaging; Natural History; Spasmodic Dysphonia; SD; Focal Dystonia; Healthy Volunteer; HV

Outcome Measures

Primary Outcomes (4)

• Premortem imaging techniques will determine if there are differences in the brain anatomy of patients with SD compared to MTD, VT andto research volunteers

  Premortem imaging techniques will determine if there are differences in the brain anatomy of patients with SD compared to MTD, VT and to research volunteers:a) Volumetric reconstruction of gray matter regions involved in voice production;b) Visualization of the white matter tracts between brain regions of interest.

  on going

• Postmortem MRI will identify discrepancies between premortem and postmortem brains of the same persons with SD in comparisons to MTD, VT and to research volunteers

  Postmortem MRI will identify discrepancies between premortem and postmortem brains of the same persons with SD in comparisons to MTD, VT and to research volunteers

  after postmortem MRI

• Microscopic examination of brain sections will determine whether abnormalities can be found in the cortical and subcortical regions involved in voice production in persons with SD that differ from patients with MTD and VT

  Microscopic examination of brain sections will determine whether abnormalities can be found in the cortical and subcortical regions involved in voice production in persons with SD that differ from patients with MTD and VT

  Postmortem

• Microscopic examination of the larynx will determine distribution of motor and sensory nerve endings in persons with SD and in patients with MTD and VT and controls

  Microscopic examination of the larynx will determine distribution of motor and sensory nerve endings in persons with SD and in patients with MTD and VT and controls

  Postmortem

Study Arms (4)

Muscle tension dysphonia

Increased phonatory muscle tension in the paralaryngeal and suprahyoid muscles onpalpation

Normal Volunteers

Normal vocal function refers to normal voice quality with a negative history of voice orlaryngeal disorders

Spasmodic dysphonia

A diagnosis of adductor or abductor SD will be based on voice testing and fiberoptic nasolaryngoscopy conducted during the initial interview

Vocal Tremor

Vocal tremor during vocalization that primarily involves laryngeal structures

Eligibility Criteria

• Age: 21 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary clinical

You may qualify if:

• 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:
• 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
• Prolonged voiceless consonants producing breathy breaks are present in abductor SD,
• Less prominent symptoms during whisper, singing or falsetto,
• 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;
• VT PATIENTS:
• Vocal tremor during vocalization that primarily involves laryngeal structures;
• CONTROLS:
• Normal vocal function refers to normal voice quality with a negative history of voice or laryngeal disorders.

You may not qualify if:

• 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:
• Vocal fold paralysis, paresis, joint abnormality, or neoplasm;
• Vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or chronic laryngitis;
• 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:
• Spasmodic dysphonia, muscular tension dysphonia, voice tremor;
• Vocal fold paralysis, paresis, joint abnormality, or neoplasm;
• Vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or chronic laryngitis;

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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. doi: 10.1002/cne.902830207.

  PMID: 2738198 BACKGROUND

• Aminoff MJ, Dedo HH, Izdebski K. Clinical aspects of spasmodic dysphonia. J Neurol Neurosurg Psychiatry. 1978 Apr;41(4):361-5. doi: 10.1136/jnnp.41.4.361.

  PMID: 650244 BACKGROUND

• 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. doi: 10.1044/jshr.3404.801. No abstract available.

  PMID: 1956188 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Voice Disorders; Dysphonia; Movement Disorders; Dystonic Disorders; Brain Injuries; Dystonia

Condition Hierarchy (Ancestors)

Laryngeal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Central Nervous System Diseases; Brain Diseases; Craniocerebral Trauma; Trauma, Nervous System; Wounds and Injuries; Dyskinesias

Study Officials

• Sandra B Martin

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 8, 2005
• First Posted: July 11, 2005
• Study Start: July 14, 2005
• Primary Completion: August 3, 2022
• Study Completion: August 3, 2022
• Last Updated: August 8, 2022

Record last verified: 2022-08

Locations

US (1)