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Dystonia is a neurological movement disorder that causes muscles in the body to contract or spasm involuntarily. The involuntary muscle contractions cause twisting, repetitive and patterned movements as well as abnormal postures.
Dystonia is not a single disease but a syndrome – a set of symptoms that cannot be attributed to a single cause but share common elements. Some forms of Dystonia may affect a specific body area, such as the neck, face, jaw, eyes, limbs or vocal cords.
Dystonia affects men, women and children of all ages and backgrounds. It can develop in childhood and is often particularly disabling for children. Dystonia may be genetic or caused by factors such as physical trauma, exposure to certain medications, or other neurological conditions.
The causes of Dystonia are not yet fully understood, but it is thought that it may be caused by a chemical imbalance in a particular area of the brain called the basal ganglia where the messages to initiate muscle contractions are believed to originate. The basal ganglia are structures deep in the brain that are in part responsible for controlling movement. They regulate the numerous muscle contractions that are necessary to move the body. If this part of the brain is damaged in some way, the wrong muscles contract when we try to move. Or the muscles contract unnecessarily even when we are immobile, causing uncontrollable twitching, tremors and contractions. These spasms are known as dystonic movements.
Some dystonia patients may have suffered from an illness or injury which has damaged the basal ganglia, but in the majority of cases the underlying cause of the condition is unknown. If no cause can be pinpointed, the dystonia is said to be idiopathic. Depending upon the type of dystonia, the specialist may decide to carry out blood tests or scans in an attempt to determine the cause.
Dystonia is best classified according to the parts of the body affected.
If only one part of the body is affected, such as the eyes, neck, a limb, or the voice, it is called Focal Dystonia. If a larger region such as the neck and arms is involved, it is called Segmental Dystonia. If the spasms affect the arm and leg on the same side it is known as Hemidystonia. If two or more unrelated parts of the body are affected it is named Multifocal Dystonia. Finally, if the Dystonia is more widespread, the term generalised Dystonia is used.
Why Haven’t I Heard of Dystonia Before?
It was only half-way through the last century that dystonia was recognised as a physical (organic) condition, and different forms were identified as manifestations of the same illness. In spite of this, dystonia often remains often misunderstood, misdiagnosed and therefore mismanaged. Research from the United States indicates that dystonia is as common as multiple sclerosis in certain areas of the world including parts of the Australia. However, there is little literature that provides adequate information about dystonia or explains its effects on those who live with the condition.
Common Forms of Dystonia
Cervical Dystonia, often referred to as spasmodic torticollis, is a particular type of focal dystonia that affects the muscles of the neck. The muscle spasms can be painful and cause the neck to twist to one side (torticollis), forward (anterocollis), or backward (retrocollis). The neck may pull, turn or jerk; it may be held persistently in one direction.
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This is a condition where the eyelid muscles spasm, causing the eyelids to close suddenly without warning. The individual has difficulty opening them again and, if severe, can lead to problems with sight although vision is not affected. Blepharospasm is often aggravated by sunlight.
Oromandibular Dystonia can affect the face, tongue, palate and jaw and presents with abnormal mouth or tongue movements, grimacing or forced opening or closing of the mouth.
Writer’s cramp, as the name suggests, affects the person’s ability to write. Writer’s cramp is usually task specific or related to the person’s occupation. The thumb and/or more fingers cramp and assume an abnormal posture while attempting to write or perform a repetitive task. A more correct term for this type of dystonia is Forearm Dystonia, as the muscles of the forearm are responsible for the cramping of the fingers as well as the hand muscles. Musicians using a range of instruments, are prone to this disorder, as are some people who perform complex repetitive tasks. This is a difficult dystonia to treat as there may be many small muscles in the hand and forearm involved. Individuals may choose to learn to use their non-dominant hand.
Spasmodic Dysphonia, sometimes known as Laryngeal Dystonia, is a rare voice disorder. Overactive movement of the muscles of the larynx (excessive closure or opening of the vocal cords) occurs during specific vocal activities such as speaking but not during laughing or yawning. The voice may be strained and effortful with sudden interruptions causing momentary loss of voice. Dysphonia can be seen with other focal dystonias such as oromandibular dystonia and blepharospasm.
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Meiges’ Syndrome, also known as Breughel’s disease, from the 16th century Flemish painter who captured the syndrome on canvas. Meiges’ is a combination primarily of blepharospasm and oromandibular Dystonia but may be seen with dysphonia.
Hemidystonia: muscle groups of one side of the body are affected, causing loss of balance and difficulty moving around. There is a lot of strain put on the unaffected muscles.
Generalised Dystonia is a rare form of dystonia which is seen more often in children than in adults. It is generally a severe disability, affecting areas of the body. Generalised dystonia often starts in a lower limb then spreads to other areas such as the neck, limbs and trunk. People with generalised dystonia often have a genetic basis for their disease.
Other Forms of Primary Dystonia
Dopa-Responsive Dystonia (DRD)
Dopa-responsive Dystonia (DRD) is a broad term used to describe cases of Dystonia that respond dramatically to low doses of a medication called levodopa. Dopa-responsive Dystonia usually starts in childhood or adolescence with progressive difficulty in walking. It may be misdiagnosed as cerebral palsy or parkinsonism. Several genes have been associated with Dopa-responsive Dystonia.
Myoclonic Dystonia (hereditary essential myoclonus), often mistaken for essential tremor, is characterized by rapid jerking movements alone or in combination with the sustained muscular contractions and postures of dystonia. The symptom distribution of myoclonic dystonia is different from typical early-onset dystonia as it more often affects the upper body whereas typical early-onset dystonia usually affects the legs. A gene associated with myoclonus dystonia has been identified.
Rapid-onset Dystonia-Parkinsonism (RDP)
Rapid-onset dystonia-parkinsonism (RDP) is characterised by the abrupt onset of slowness of movement (parkinsonism) and dystonic symptoms. The classic features of RDP include involuntary dystonic spasms in the limbs, prominent involvement of the speech and swallowing muscles, slowness of movement and poor balance. Onset of the combined dystonic and parkinsonian symptoms can be sudden, occurring over hours to days. RDP usually occurs in adolescence or young adulthood (age range 15 to 45).
Paroxysmal Dystonia and Dyskinesias (PDD)
Paroxysmal Dystonia and Dyskinesias (PDD) are a group of disorders in which the patient experiences relatively brief episodes of abnormal movements and postures with a return to normal posture between episodes. Some forms of PDD are genetic.
X-linked Dystonia-Parkinsonism (lubag)
X-linked dystonia-parkinsonism (Lubag) is a form of dystonia found almost exclusively among men originally from the Philippine island of Panay. Female family members are carriers of the gene. X-linked dystonia-parkinsonism usually begins focally, generalises, and may be replaced by parkinsonian features.
Secondary (Symptomatic) Dystonia
In this type of Dystonia, the symptoms are due to small areas of brain damage. The dystonia is segmental, generalised or hemidystonia. The damage can be caused by reduced oxygen around the time of birth or in utero (cerebral palsy), by other injury to the brain, small strokes or tumours. Secondary dystonia usually results from apparent outside factors such as exposure to certain medications, trauma, toxins or infections. Dystonia can also be secondary to other illnesses that affect the nervous system such as Wilson’s disease, Huntington’s disease and multiple sclerosis.
Acute Dystonic Reactions
Drugs frequently cause movement disorders. Often, those affected, experience an acute dystonic reaction after a single exposure to a drug. The symptoms are usually short-lived and may be treated successfully with medication. Dystonic reactions to (metoclopramide dydrochloride) Maxolon and (prochlorperazine maleate) Stemetil are particularly common in young people. Acute dystonic reactions can often be dramatic in presentation. Sometimes they can be so severe, they warrant life-saving measures. This usually occurs when the laryngeal muscles are involved and respiratory difficulties are experienced.
Tardive Dystonia and Tardive Dyskinesias
Tardive dystonia and tardive dyskinesias are neurologic syndromes caused by exposure to certain drugs called neuroleptics. Neuroleptic drugs are used to treat certain movement disorders, psychiatric disorders, and some gastric conditions. Tardive syndromes may also develop in some Parkinson’s patients as a result of exposure to levodopa. The word ‘Tardive’ means late or tardy, and in this case refers to the onset of the symptoms after the drug is taken. Dystonic postures and movements may present soon after the person has initiated neuroleptic therapy but may also be delayed by days or weeks. Movements can vary from brief jerks to prolonged muscle spasms often involving the eyes, mouth, throat and neck.
Dystonic symptoms typically occur between 2-24 hours after the first drug dose is administered. Signs may persist for hours or even days and the intensity of the symptoms vary. The way the drug affects a person is often age-related. Children may develop spasms involving the trunk and extremities, where as adults tend to develop dystonic spasms in the face, neck and upper extremities. These spasms and postures can come on abruptly, are often painful and may change in their distribution, affecting different body parts at different times. Tardive dystonias are often very difficult to treat and can persist long-term.
The link between trauma and dystonia is not yet fully understood. It appears from published studies that persons who are carriers of a gene for dystonia may be more likely to have trauma as a triggering factor for the development of dystonia.
A number of uncommon toxins are capable of causing brain damage centred in the motor control region known as the basal ganglia. Dystonia may be one prominent feature experienced by people with these exposures, but it is extremely uncommon for ‘isolated dystonia’ to be seen in such patients. In other words, the vast majority of people exposed to toxins (i.e. manganese) have additional neurological problems associated with the dystonia. Possibly the most common feature is such patients is the presence of a Parkinson’s Disease-like state.
The role of environmental factors causing or contributing to dystonia remains uncertain. It is not clear why some individuals inheriting a special gene develop and severe form of dystonia while many others who have inherited the same gene either never develop the problem or only demonstrate a very mild form (this is what is meant by ‘variable penetrance’ in genetics parlance).
Secondary dystonias can accompany other disorders resulting in dystonic symptoms. Wilson’s Disease and Hallervorden-Spatz Disease are examples of many disorders that can cause dystonia symptoms.
Wilson’s Disease (hepatenticular degeneration) is a rare hereditary disease resulting from excessive copper accumulation in the body. Normally, copper is excreted without any difficulties, but in Wilson’s disease, copper is deposited and accumulates in the liver, brain and around the eye. Dystonia is a prominent clinical feature in some people with Wilson’s disease. Wilson’s disease requires specific treatment.
Hallervordern-Spatz disease is a very rare inherited progressive disease of the brain, typically involving the basal ganglia and often associated with severe dystonia and parkinsonism. A MRI scan of the brain is very helpful in making the diagnosis of Hallervordern-Spatz disease by demonstrating increased iron deposition in these deep brain regions.
What is my prognosis?
If dystonia develops in childhood, particularly if it starts in the legs, then in many (but not all) cases it will spread to other parts of the body and become generalised. However, when it develops in adults, it tends to have different characteristics, is generally confined to a local area (focal dystonia) and is less likely to spread to other parts of the body.
Will it be passed on to my children?
The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance can play an important role in dystonia. Most cases of primary, segmental and generalised dystonia are due to a gene inherited in a dominant manner. Many cases of dopa-responsive dystonia are inherited in this way. Dominant means that each child of a parent who carries the abnormal gene has a 50/50 chance of inheriting that gene.
A number of different genes on different chromosomes have now been identified as being linked with different types of dystonia, but researchers don’t yet know exactly how a particular gene causes dystonia. The DYT1 gene on chromosome 9, which is related to early-onset generalised dystonia, was only located in 1997. One benefit of finding this single mutation for familial dystonia is that genetic counselling and testing will in future be available for appropriate individuals. Patients should seek specialist advice from a neurologist about the risks to their relatives, based on the details of each individual case.
As with all genetic research, the next step will be to work out what the function of the gene is, and how it causes dystonia.
Who treats Dystonia?
A Specialist Neurologist who has a special interest in movement disorders is the best person to diagnose, treat and understand your special needs. He/she will discuss with you the treatment that is available and answer the many questions you may have about your new diagnosis.
Your General Practitioner (GP) will be able to refer you to one of these specialists. Between visits to your specialist you will be looked after by your GP and they will make contact with the specialist should there be any problems in this time. You may find that if your GP has no other patients with your type of dystonia, he/she may well learn most about the condition from treating you.
What should I do to prepare for my appointment?
If you’ve kept a brief diary of your symptoms prior to diagnosis this may prove useful to the person examining you. Bring any recent test results or scans. It’s a good idea to write down a list of questions – that way you’ll be sure to cover all of the issues that are concerning you during the consultation. Lastly, it often helps to take a friend or relative with you to act as a second pair of eyes or ears. You’ll then have someone else to help with the details of the consultation if you need to remember some vital information later on.
How do doctors diagnose Dystonia?
Currently there is no specific laboratory test or imaging that reliably confirms a diagnosis of dystonia. Instead, the diagnosis of dystonia rests largely on the clinical picture including the patient’s account of symptoms, their medical background and the physical examination. For a doctor to diagnose a form of dystonia they need to be able to recognise the physical signs and be familiar with the symptoms. Further tests may be ordered but in many cases these will be normal.
What treatments are available?
For focal dystonias, including blepharospasm, spasmodic torticollis, oromandibular dystonia, spasmodic dysphonia and sometimes writer’s cramp, injections of botulinum toxin to temporarily weaken the muscles involved have become a very effective treatment.
Botulinum toxin is usually most effective if the dystonia affects only a limited group of muscles. Generally the injections need to be repeated every 3 or 4 months, though this may vary from patient to patient. The injections are available in certain neurology, ophthalmology and ENT clinics.
It is now being recognised that some specialised types of physiotherapy can help – usually in association with botulinum toxin – especially for patients with torticollis. Speech therapy has been shown to prolong the effects of Botulinum toxin through reducing compensatory speech patterns (Murry and Woodson, 1995). Many other types of treatment have been tried.
Unfortunately there is little evidence that acupuncture, homeopathy or diet produce any lasting benefit. Some patients, however, do feel that such treatments lessen stress, which in turn can reduce muscle spasms.
Do drugs help?
If the problem is mild, it may be best to avoid drug treatment. Drugs need to be taken continuously for long periods of time, and all drugs can cause unwanted side-effects. No drugs can cure dystonia yet.
However, if your dystonia is causing unacceptable disability, then drug treatment may be recommended to try to control the muscle spasms. Unfortunately drug treatment is scarcely ever 100% effective, and many patients do not get great relief. Another problem is that no one drug is best for all patients with dystonia. Children usually respond better, but if one drug doesn’t work you may need to try a series of different drugs to discover which is best for you, offering the greatest relief but producing the least side-effects.
Is Surgery an option?
In the past, surgical options have included selective cervical denervation, thalamotomy, and pallidotomy. The growing adoption of deep brain stimulation for the treatment of intractable movement disorders has led to the emergence of pallidal stimulation as the surgical therapy of choice for many patients with dystonia. Published series have supported the efficacy of chronic globus pallidus internus (GPi) stimulation in the treatment of this group of abnormal involuntary movement disorders, however, the long-term outcome and pattern of clinical improvement is yet to be ascertained.*
*Deep brain stimulation for generalised dystonia and spasmodic torticollis, Richard G. Bittar et al, Journal of Clinical Neuroscience 2004, Published by Elsevier Ltd. doi:10.1016/j.jocn.2004.03.025
Classification by age of onset
Age of onset tends to be the best factor in determining the chance of progression.
- Young onset or childhood
- Adolescent onset
- Adult onset References
Classification by Body Distribution
- Generalised dystonia or Early-Onset Childhood Dystonia affects all or most of the body.
- Focal dystonia affects one specific part of the body.
- Multifocal dystonia involves two or more unrelated parts of the body.
- Segmental dystonia involves two or more parts of the body that are adjacent.
- Hemidystonia affects either the left or the right side of the body.
Focal Forms of Dystonia
- Cervical Dystonia (Spasmodic Torticollis)
- Embouchure Dystonia
- Spasmodic Dysphonia
- Writer’s Cramp
Inherited Forms of Dystonia
- Early-Onset Childhood
- Dopa-responsive Dystonia
- Paroxysmal Dystonia
- X-linked Dystonia-Parkinsonism
- Myoclonic Dystonia
- Rapid-Onset Dystonia-Parkinsonism
Most Common Forms of Dystonia
- Cervical Dystonia or Spasmodic Torticollis
Affects the neck muscles, turning the head to the side, or pulling it back or forward.
- Spasmodic Dysphonia
Affects the muscles that control the vocal cords, making it difficult to speak.
- Oromandibular Dystonia
Affects the muscles of the lower face causing them to pull or contract. Blepharospasm is usually present.
Affects the eyelids, causing them to close for seconds to hours.
- Writer’s Cramp
Affects the fingers, the hand, and occurs when the person attempts to write or perform fine hand functions.
- Generalized Dystonia
Usually begins with the limbs, especially the foot and the arm, affecting most of the body.
Help and Support
Dystonia can be a lonely and depressing condition. Outward symptoms can be a source of great embarrassment and frustration for the sufferer. The fact that there is no known cure for dystonia often adds to this distress. Many suffer personal problems resulting from changes to their body image. Self‑esteem often lowers as individuals lose confidence in themselves and their ability to function as a normal human being. Some people are concerned about how the dystonia will affect their financial position, their normal routine and basic enjoyment of life. These issues are often made worse because so little is known about the disorder.
Coping With Dystonia
- Accept your condition
Realise that your condition cannot be completely cured or resolved by medical treatment. Understanding your condition and learning more about it might be helpful in accepting what is happening to you.
- Use a positive approach
Recognise that in order to move forward, you must develop a positive relationship with your body and the symptoms it is producing. You can do this by learning positive ways to cope with your condition.
- It’s OK to grieve
Realise that parts of your life may never be the same again. Come to terms with the fact that these past experiences may now be over. Find new ways to make your life rewarding.
- Realise your limitations
Don’t be so hard on yourself when things don’t go the way you’d like them to. Realise, that like all individuals, you have limitations too. Humans make mistakes and it might take a few more mistakes before you develop the skills you need to deal with your condition properly and live as well as you can.
- Share coping mechanisms
If you develop a new way of coping, try sharing it with others in a similar position. By helping another person you’re also helping yourself.
Australian Dystonia Support Group
Contact: Lee Pagan
Facebook: To join a Facebook Support Group email the above contact for an invitation.
The Dystonia Support Group of Cairns
Contact: Sue Bayliss
Ph: (07) 4032 4033
South Australian Dystonia Group
Contacts: Margot Chiverton, Erin Shaddick
Mobile: (Margot) 0400 639993
Blepharospasm Australia (online support group)
NSW Blepharospasm Support Group
Contact: Stephen Bradley
Mobile: 0408 232 338
Victorian Blepharospasm Support Group
Contact: Elizabeth Foster
Ph: (03) 9587 2326
Royal Victorian Eye & Ear Hospital
Ph: (03) 9929 8536
Fax: (03) 9663 7203
WA Blepharospasm Support Group
Contact: Lesley Reynolds
Contact: Cynthia Turner
Ph: (02) 9411 2424
Australian Spasmodic Torticollis Association (ASTA) - Victoria
Contact: Secretary - Jan
PO Box 133
WESTMEAD NSW 2145
Ph: (03) 9723 6651
Speech Pathology Departments
Speech Pathology Department
St Vincent’s Hospital
DARLINGHURST NSW 2010
Ph: (02) 8382 3372
Fax: (02) 8382 3687
Speech Pathology Department
Royal Victorian Eye and Ear Hospital
PO Box 139
EAST MELBOURNE VIC 3002
Ph: (03) 9929 8223
Fax: (03) 9663 7203
Speech Pathology Department
Princess Alexandra Hospital
WOOLLOONGABBA QLD 4102
Ph: (07) 3240 2314
Fax: (07) 3240 2900
Speech Pathology Department
Queen Elizabeth Hospital
28 Woodville Road
WOODVILLE SOUTH SA 5011
Ph: (08) 8222 6723
Speech Pathology Department
Royal Perth Hospital
PERTH WA 6001
Ph: (089) 224 2197
Fax: (089) 224 3511
- Dystonia Medical Research Foundation (DMRF), Chicago USA
- WE MOVE (Worldwide Education & Awareness for Movement Disorders) New York, USA
- [information on dystonia]
- Care4dystonia, Inc.
- Benign Essential Blepharospasm Research Foundation (BEBRF), Texas USA
- National Spasmodic Dysphonia Association, Chicago USA
- National Spasmodic Torticollis Association, California USA
- Spasmodic Torticollis/Dystonia Inc (WI, USA)
- Bachmann-Strauss Dystonia & Parkinson Foundation (New York, US)
- Dopa-responsive Dystonia Central
- EDF European Dystonia Federation
- Osterreichische Dystonie Gesellschaft (Austria)
- Belgische Zelfhulpgroep Voor Dystoniepatienten (Belgium)
- Hrvatska Grupa Za Istrazivanje Distonije (Croatia)
- Dansk Dystoniforening (Denmark)
- Suomen Dystonia-Yhdistys (Finland)
- Association des Malades Atteints de Dystonie (AMADYS) (France)
- Ligue Francaise contre la Dystonie (LFCD) (France)
- Deutsche Dystonie Gesellschaft e.V. (Germany)
- Dystonia Ireland
- Associazione Italiana per la Ricerca sulla Distonia (ARD) (Italy)
- Nederlanse Vereniging van Dystoniepatienten (Netherlands)
- Norsk Dystoniforening (Norway)
- Associacao Portuguesa de Distonia (Portugal)
- Asociacion de Lucha contra la Distonia en Espana (ALDE) (Spain)
- Asociacion de Lluita contra la Distonia a Catalunya (ALDEC) (Spain)
- Svensk Dystoni Forening (Sweden)
- Schweizerische Dystonie-Gesellschaft (SDG) (Switzerland)
- Association Suisse contre la Dystonie (ASD) (Switzerland)
- Associazione Svizzera contro la Distonia (ASD) (Switzerland)
- The Dystonia Society (TDS) (United Kingdom)
- Action for Dystonia, Diagnosis, Education and Research (ADDER) (United Kingdom)
On-line Support Groups
Spasmodic Dysphonia Support on the Internet
International Dystonia On-Line Support Group
Information for parents whose children have dystonia
“Ride It Out” Young People's E-mail Pen Pal Club
Transcripts of Dystonia Symposiums
Bulletin Boards, Chat Rooms & Forums
Bulletin Boards for dystonia, spasmodic dysphonia, blepharospasm and musicians with dystonia
Blepharospasm Bulletin Board
WE MOVE chat rooms for Dystonia, Essential Tremor, Musicians with Dystonia, Parent-to-Parent, Spasmodic Dysphonia, Tardive Dyskinesia
Spasmodic Torticollis community forum
Click here for the latest Australian research papers on Dystonia.
2012 Research Applicant Essay - Bradnam Lynley
- Diagnosing idiopathic dystonia: must it take so long? Anne T Powell, John W Bidewell and Annette C Walker, Australian Health Review Vol 18, No.3, 1995
- Spasmodic Torticollis: The Patient’s point of view Paper presented by Anne Powell, Associate Professor, UWS Nepean. 30th March 1995
- What’s wrong with your voice?: The Story of Spasmodic Dysphonia in Australia Don Edgar PhD
- What we still don’t know about spasmodic dysphonia Christy L Ludlow PhD NSDA Quarterly Report Volume 3. No. 3 Summer 1994
- Speechless – Living with Spasmodic Dysphonia, published by the National Spasmodic Dysphonia Association in collaboration with Dot Sowerby, Jean Newcomer, and Betty Schonauer
- Spasmodic Dysphonia: Myths and Facts Francis J Freeman PhD, Michael P Cannito MS, Terese Finitzo-Hieber PhD, Elliot Ross MD c1990
- When Botox® doesn’t work Robert W Bastian MD, Professor of Otolaryngology/Head and Neck Surgery, Loyola University, Chicago NSDA Newsletter, January 2001
- Longitudinal experience with botulinum toxin injections for treatment of blepharospasm and cervical dystonia Joseph Jankovic MD and Kenneth S Schwartz PA NEUROLOGY 1993:43:834-836
- Acute and chronic effects of botulinum toxin in the management of blepharospasm (Updated August 1999) Jonathon J. Dutton, MD PhD, The Duke University Eye Center, Durham, North Carolina.
- “Thank You for Asking”: A response-resource Coping Book Valerie F Levitan PhD, Published by the Dystonia Medical Research Foundation, 1998
- Holding the Hope: A Parent’s Guide to Living with Dystonia 2nd Edition Karen K Ross, PhD, Published by the Dystonia Medical Research Foundation, 1996
- The Disease That Distorts by Eugene Smith, Published by Peanut Butter Pub, 1997, ISBN: 0897166213
- I’m Moving Two: A Poetic Journey with Dystonia by Beka Serdans, Published by Xlibris Corporation, 2000 ISBN: 0738828459
- Surviving Dystonia by Carmine L Petrangelo, Published by Carmine L Petrangelo, 2002, ISBN: 0972371109