|55 Kenosia Avenue
Danbury, CT 06810
Toll Free: 1.800.999.6673
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
Copyright 1987, 1988, 1990, 1991, 1996, 2002, 2014
NORD is very grateful to H A Jinnah, MD, PhD, Professor, Departments of Neurology, Human Genetics, & Pediatrics, Emory University School of Medicine, for assistance in the preparation of this report.
Laryngeal dystonia (LD) is a chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the voice box (larynx). These muscles control speech. The spasms can result in tightness in the throat, recurrent hoarseness, and changes in voice quality and/or difficulty speaking. At certain times, affected individuals must make a conscious effort in order to speak. The most frequent sign of this disorder is a sudden, momentary lapse or interruption of the voice. When affected individuals speak, their voice may sound strained, forced, strangled, breathy, or whispery. In severe cases, an affected individual may be barely able to speak. LD can potentially cause significant quality of life issues for affected individuals impacting both work and social situations. The disorder can cause psychological effects including depression and anxiety. There is no cure for LD, but the disorder can be effectively treated. The cause of LD is not known.
Laryngeal dystonia is a form of dystonia, a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of conditions is generally characterized by involuntary muscle contractions that force the body in abnormal, sometimes painful, movements and positions (postures). LD is classified as a focal dystonia because it affects a specific part of the body (muscles within the voice box). LD is also known as spasmodic dysphonia.
The severity of LD can fluctuate from symptom-free periods with normal voice to severely disabling periods where an affected individual will experience significant difficulty speaking clearly or be barely able to speak. Symptom fluctuation can occur during the same day or from day to day or longer. LD tends to affect normal conversational speech. Several studies have shown that singing, laughing, yelling, etc. are usually unaffected by the disorder.
There are two main types of LD, adductor LD and abductor LD. Adductor LD, the more common type, affects approximately 80% to 90% of individuals. This type affects the muscles that draw the vocal cords together and the vocal cords sometimes become locked. Adductor LD is characterized by a tight, strained, or harsh sounding voice. Affected individuals may experience difficulties in the voicing of specific vowels sounds such as in the words "eat," "back," "I," "olives," or "nest".
Abductor LD affects the muscles that draw the vocal cords apart. Abductor LD is characterized by breathy, whispered speech and loss of voice for short periods of time (aphonia). Individuals affected by the abductor type may have difficulty controlling speech after certain sounds (e.g., "h," "s," "p," "t," or "k".
In some cases, affected individuals may exhibit both types, referred to as mixed LD. Some individuals also experience a vocal tremor, in which the larynx and vocal cords shake potentially affecting speech and making the voice difficult to understand because it sounds shaky or quivery.
Onset of LD is usually gradual and the initial symptoms may be mild. Symptoms may progress for the first 2-5 years then generally stabilize. Approximately 15% of patients progress into other forms of dystonia involving the face or neck. The disorder usually remains chronic without marked changes over a period of years, although symptoms may worsen with stress. The number and severity of symptoms varies widely among affected individuals.
The exact cause of LD is not known (idiopathic). Several different factors may be involved in the development of the disorder (multifactorial). Several theories exist that attempt to explain the underlying mechanisms of LD including abnormal functioning of portions of the brain involved in muscle control, or imbalances in neurotransmitters. Neurotransmitters are chemicals that modify, amplify, or transmit nerve impulses from one brain cell (neuron) to another, enabling nerve cells to communicate. Although the underlying mechanisms and causes of LD are not well understood, research is ongoing to determine the specific roles that genetic, environmental, and other factors ultimately play in the development of the disorder.
There are reports in the medical literature that suggest LD may develop following specific factors such as an upper respiratory infection or bronchitis, trauma or surgery, or exposure to certain drugs and/or toxins. However, such theories are controversial because there is no scientific evidence conclusively linking these factors to LD.
Genetic factors are believed to play a role in some cases, especially in individuals who have relative with another form of dystonia. These individuals may have a genetic susceptibility to developing the disorder. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or activated by other genetic modifiers or environmental factors (complex genetics).
A specific genetic form of dysphonia, known as whispering dysphonia or DYT4 dystonia, has been identified in a large Australian family (kindred). This form of dysphonia is caused by mutations in the TUBB4 gene. Researchers have speculated that different mutations in this gene may contribute to the development of LD. More research is necessary to determine what role this or other genes have in the development of LD.
LD occurs more often in females than males and can affect individuals of all ethnic backgrounds. Onset can occur at any age, but usually occurs between 20 and 60 years of age. The exact incidence or prevalence of the disorder is unknown. LD is estimated to affect approximately 50,000 people in North America. However, determining the true frequency of LD in the general population is difficult because many cases are misdiagnosed or go undiagnosed.
Symptoms of the following disorders can be similar to those of LD. Comparisons may be useful for a differential diagnosis:
Muscle tension dysphonia is a condition characterized by hoarseness or a strained, rough quality of the voice. Symptoms may become progressively worse with use and improve with rest (i.e. not speaking). Muscle tension dysphonia is caused by abnormal contractions of the muscles of the voice box that control the voice. It is common in individuals who use their voice frequently and may result from straining, squeezing, or pushing these muscles inappropriately. Unlike LD, muscle tension dysphonia is reversible with voice therapy.
Essential tremor (ET) is a progressive, neurological disorder characterized by tremor, most often of the hands or arms. A tremor is an involuntary, rhythmic, movement of a body part. Tremor may be seen as involuntary shaking or trembling of the affected area. In individuals with ET, other motor symptoms may be present including an unsteady manner of walking due to an inability to coordinate voluntary movements (ataxia). The primary symptom of this disorder is a fine or coarse rhythmic tremor that occurs approximately four to 12 times per second; the tremor may occur on only one side of the body. In some cases, essential tremor may affect the tongue and/or the vocal cords. When tremors affect the tongue, some affected individuals may have difficulty speaking (dysarthria). Tremors that cause the involuntary movements of the vocal cords are produced by rhythmic, alternate contractions of opposing muscles in the larynx. ET can occur in childhood or adulthood. The exact, underlying cause of ET is not fully understood. In some cases, the disorder runs in families; in others, it occurs in individuals with no previous family history. The cause of ET is most likely multifactorial, which means that several factors, such as genetic and environmental ones, all play a role in the development of the disorder. (For more information, choose "Essential Tremor" as your search term in the Rare Disease Database.)
Chronic stuttering is a common speech disorder characterized by an abnormal speech pattern that is composed of repetitions, prolongations, and unusual hesitations that disrupt the rhythmic flow of speech. Affected children usually know what they want to say, but have difficulty or are unable to say it. The disorder usually appears before age 12 and often affects more than one family member (familial). Although stuttering usually resolves on its own (spontaneously) before adolescence, it can persist into adulthood. Most likely, chronic stuttering is caused by a variety of factors.
The diagnosis of LD usually includes inspection of the voice box (laryngoscopy) to rule out structural abnormalities of the vocal cords such as nodules, polyps, or tumors. The diagnosis may require speech pathology, otolaryngology, and neurology consultations. Laryngeal electromyogram (EMG) and nuclear magnetic resonance imaging (NMRI) have been used to identify any associated neurological disorders.
There is no cure for LD. Treatment is aimed at the specific symptoms apparent in each individual. Psychological support and counseling can help individuals cope with depression, anxiety or other psychological issues associated with LD.
Botulinum toxin therapy is often used for LD. The drug works by weakening the muscle by blocking nerves impulses to the muscle and preventing the release of the neurotransmitter acetylcholine, which stimulates muscular contractions. The drug is injected into the vocal cords every three or four months, to reduce vocal cord spasms. Some individuals can wait longer between injections before symptoms return and more injections are needed. The degree of effectiveness of Botulinum toxin will differ in each individual case. Botulinum toxin is approved by the Food and Drug Administration (FDA) for cervical dystonia and blepharospasm and is widely used off label to treat all forms of dystonia. Botulinum toxin is manufactured by Allergan Pharmaceuticals (as BOTOX®), Elan Pharmaceuticals (as MYOBLOC®), Ipsen Pharmaceuticals (as DYSPORT®), and Merz Pharmaceuticals (as XEOMIN®).
Speech or voice therapy such as voice relaxation techniques may be beneficial for some individuals with LD, especially those with mild cases of the disorder. Speech or voice therapy may also be effective in treating side effects associated with other treatments such as Botulinum toxin (adjuvant therapy). Some individuals may benefit from using machines or devices that amplify the voice.
Oral medications have been used to treat forms of dystonia such as LD. However, there are no oral medications that are FDA approved for such use. Such medications include dopaminergic agents (levodopa), anticholinergic agents (benztropine, trihexyphenidy), baclofen, and clonazepam. These drugs act in various way to reduce muscle or nerve activity, but are often associated with adverse side effects.
If other therapeutic options are ineffective, contraindicated, or no longer effective after initially providing relief, then surgery may be recommended. Surgery may be aimed at separating the vocal cords or weakening the affected muscles of the larynx. Specific procedures include thyroplasty or selective laryngeal adductor denervation-reinnervation.
Decisions concerning the use of particular drug regimens and/or other treatments such as surgery should be made by physicians and other members of the health care team in careful consultation with parents or a patient based upon the specifics of an individual case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
Aronson AE, Bless DM, eds. Clinical Voice Disorders, 4th ed. Thieme Medical Publishers, New York, NY. 2009:101-134.
DeLong MR. Laryngeal Dystonia (Spasmodic Dysphonia). In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:613-614.
Meyer TK, Hu A, Hillel AD. Voice disorders in the workplace: productivity in spasmodic dysphonia and the impact of botulinum toxin. Laryngoscope. 2013;123:S1-14. http://www.ncbi.nlm.nih.gov/pubmed/23818277/
Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYTa dystonia) is caused by mutation in the TUBB4 gene. Ann Neurol. 2012;[Epub ahead of print]. http://www.ncbi.nlm.nih.gov/pubmed/23595291
Childs L, Rickert S, Murry T, Blitzer A, Sulica L. Patient perceptions of factors leading to spasmodic dysphonia: a combined clinical experience of 350 patients. Laryngoscope. 2011;121:2195-2198. http://www.ncbi.nlm.nih.gov/pubmed/21898448/
White L, Klein A, Hapner E, et al. Co-prevalence of tremor with spasmodic dysphonia: a case-control study. Laryngoscope. 2011;121:1752-1755. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146022/
Chhetri DK, Mendelsohn AH, Blumin JH, Berke GS. Long-term follow-up results of selective laryngeal adductor denervation-reinnervation surgery for adductor spasmodic dysphonia. Laryngoscope. 2006;116:635-642. http://www.ncbi.nlm.nih.gov/pubmed/16585872/
Sulica L. Contemporary management of spasmodic dysphonia. Curr Opin Otolarnygol Head Neck Surg. 2004;12:543-548. http://www.ncbi.nlm.nih.gov/pubmed/15548915
Pitman MJ, Kamat AR, Bliznikas D, Baredes S. Spasmodic Dysphonia. Emedicine Journal, July 12, 2013. Available at: http://emedicine.medscape.com/article/864079-overview Accessed on: December 18, 2013.
National Institute on Deafness and Other Communication Disorders. Spasmodic Dysphonia. February 10, 2011. Available at: http://www.nidcd.nih.gov/health/voice/Pages/spasdysp.aspx Accessed On: December 18, 2013.
Report last updated: 2008/04/26 00:00:00 GMT+0