Dystonia is a general term for a large group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). The muscular contractions may be sustained or come and go (intermittent). Movements may be patterned and twisting, and/or in some cases shaking or quivering (tremulous) resembling a tremor. Dystonia may occur or be worsened when an individual attempts a voluntary action. There are many different causes for dystonia. Genetic as well as non-genetic factors can contribute to the development of these disorders. In some cases, the exact, underlying cause is unknown (idiopathic). The most characteristic finding associated with most forms of dystonia is twisting, repetitive movements that affect the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups. Certain forms such as laryngeal dystonia are not associated with abnormal postures. Dystonia causes varying degrees of pain and disability that ranges from mild symptoms that come and go to severe, debilitating symptoms that can significantly affect a person’s quality of life. In some cases dystonia can become progressively worse, while in others it remains unchanged or no longer worsens (plateaus). Dystonia may even spontaneously remit in rare cases. Treatment for dystonia depends upon several factors including the specific subtype present and can include medications, botulinum toxin injections, physical therapy and surgery.Introduction
Dystonia was first described in the medical literature as far back as the 1800s. However, the classification of dystonia has always been complicated and controversial, resulting in confusion, not only for patients, but within the medical community as well. A new basis for classifying the dystonias has been proposed based on a consensus achieved by an international expert group of physicians (Albanese A, et al. 2013). This group has proposed to classify dystonia based on two axes: clinical features and etiology.
Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features. Age of onset is broken down into infancy (birth to 2 years), childhood (3-12 years), adolescence (13-20), early adulthood (21-40), and late adulthood (greater than 40 years). Dystonia that develops during infancy or childhood is more likely to have a known cause and to progress to become widespread.
Classifying dystonia by the specific body part(s) affected is common to many classification systems. Generally, dystonia may be focal (affecting an isolated body part), segmental (affecting adjacent body areas), multifocal (two or more noncontiguous areas), generalized (affecting the trunk and two other body regions), and hemidystonia (affecting one side of the body).
Temporal pattern helps to distinguish between dystonia that becomes progressively worse or remains unchanged (static). It also refers to the variability in disease expression in relation to other factors such as external triggers or voluntary actions. Temporal patterns can be broken down into four types: persistent, in which dystonia persists throughout the day without fluctuation; task-specific, in which dystonia occurs only during a specific action or task (e.g. writer’s cramp); diurnal fluctuations; in which dystonia fluctuates in severity at certain points throughout the day and often lessens during the night; and paroxysmal in which a sudden, temporary episode of dystonia occurs often as the result of a specific trigger.
Dystonia can also be classified by whether or not dystonia occurs along with another movement disorder. Isolated dystonia is when dystonia is the only motor feature with the exception of tremor. Combined dystonia is used when another movement disorder such as parkinsonism or myoclonus is also present.
The etiology axis refers to whether degenerative changes or structural damage is present in the nervous system (nervous system pathology) and whether the disorder is inherited or acquired, or whether the underlying cause is unknown or unproven (idiopathic).
The use of this new classification would deemphasize much of the current terminology used in describing dystonia. Some of the current terminology would be rendered obsolete. Current terminology used to categorize dystonia includes primary dystonia, secondary dystonia, dystonia plus syndromes, and heredodegenerative dystonia. Primary dystonia referred to cases in which dystonia was the only clinical features (isolated dystonia), there was no evidence of brain degeneration, and without an acquired cause. Primary dystonia may be inherited or occur for unknown reasons (idiopathic). Secondary dystonia referred to cases in which dystonia resulted from a broad range of causes including genetic mutations, birth injury, stroke, brain tumors, certain infections, and as a reaction to certain drugs. Dystonia plus syndromes referred to disorders in which dystonia occurred in conjunction with another neurological disorder such as myoclonus or parkinsonism. Heredodegenerative dystonia referred to hereditary cases that were associated with neurodegeneration and occur with other neurological symptoms.
Until a consistent, straightforward classification system is adopted by the medical community confusion regarding terminology in describing dystonia will persist. In addition, dystonia is a rapidly growing disease family and information about these disorders is constantly changing.
Early onset childhood dystonia (generalized dystonia) is a neurologic movement disorder that usually begins in childhood or adolescence. Symptoms start in one part of the body (usually an arm or leg) and may eventually spread to other parts of the body, causing contractions and spasms of muscles that twist the body into unnatural positions. This is the most common hereditary form of dystonia, in most cases caused by the DYT1 gene.
Specific symptoms can vary from one person to another even among individuals with the same subtype. Specific symptoms may occur based upon the specific part of the body involved, age of onset and the underlying cause. Dystonias with an earlier age of onset are more likely to progress from a focal presentation to a generalized one and are usually more severe. Adult onset forms of dystonia tend to exhibit a focal presentation and usually do not progress.
Some affected individuals can temporarily interrupt dystonic movements or postures by performing a specific action or maneuver. This is known as ‘gestes antagoniste’ or a sensory trick. Usually, the action involves a body part not affected by dystonia, but often nearby the affected area. For example, some individuals can temporarily alleviate cervical dystonia by touching their chins.
Some of the better known forms of dystonia are briefly discussed below. NORD has individual reports on many of the specific dystonia subtypes. For more information, choose the specific disorder name as your search term in the Rare Disease Database.
ISOLATED FOCAL DYSTONIA
Isolated focal dystonias are the most common dystonias and can include benign essential blepharospasm, cervical dystonia, oromandibular dystonia, and laryngeal dystonia. These dystonias often have adult onset. NORD has individual reports on these forms of dystonia.
Isolated limb dystonia may occur in adults and often affects the arms and/or hands. Many are occupational or task-specific. Occupational or task-specific dystonia are general terms that refer to focal dystonia associated with a particular, often repetitive, activity. Initially, affected individuals may exhibit a lack of dexterity when performing the activity in question. Eventually, the condition progresses to cause repetitive movements and abnormal postures. The most common form may be writer’s cramp, in which abnormal flexion, extension or rotation of the fingers and wrist occurs when an affected individual writes.
Musician’s dystonia is a form of task-specific dystonia that involves muscles that are involved with performance. Symptoms occur when musicians attempt to play an instrument. Focal hand dystonia and embouchure dystonia are the most common forms. Focal hand dystonia is characterized by painless loss of muscular control in relation to highly practiced movements (as seen with pianists, guitarists, etc.).
Embouchure dystonia is a specific form of musician’s dystonia that affects individuals who play brass and woodwind instruments. This form of dystonia can affect the muscles of the mouth, face, jaw, and tongue. The muscular contractions that characterize embouchure dystonia may only occur when the musician is playing or blowing into the mouthpiece of the instrument.
A genetic classification for dystonia was established that sub-classified dystonia based upon the specific genetic mutation/loci associated with the subtype. Disorders were given the official abbreviation DYT and a number (e.g. DYT1). The subtypes are numbered in the order they were identified in the medical literature. There have been approximately 25 forms identified. However, this classification has several problems. Designations were assigned without a known gene so that individuals with one form of dystonia were eventually found to have an existing form. For example, individuals with DYT14 were eventually determined to have DYT5. Another issue is that some disorders included in this classification system do not have dystonia as the primary symptom, but rather another neurological finding such as myoclonus or parkinsonism. Furthermore, many genetically-determined disorders with dystonia as a feature are not included in the classification such as Lesch-Nyhan syndrome, Wilson’s disease and deafness-dystonia-optic neuronopathy syndrome.
Some of the better known forms of inherited dystonia are described below.
DYT1-related dystonia usually begins in childhood or adolescence. However, the disorder may also develop later during life. Symptoms usually start in one part of the body (usually an arm or leg) and may eventually spread to other parts of the body, causing contractions and spasms of muscles that twist the body into unnatural positions. Severity can vary greatly from one person to another, even among members of the same family. The disorder can potentially cause significant disability in childhood while, in other cases it can remain undiagnosed until adulthood with only mild symptoms. DYT1-related dystonia is the most common hereditary form of dystonia and is caused by the DYT1 (also known as TOR1A) gene. This form of dystonia is inherited in an autosomal dominant manner.
X-linked dystonia-parkinsonism (also known as “Lubag” or DYT3) is a form of dystonia found almost exclusively among men from the Philippine island of Panay. Most female carriers do not develop symptoms (asymptomatic). The symptoms and clinical course is highly variable. Affected individuals may develop symptoms associated with parkinsonism including abnormal slowness of movement (bradykinesia), resting tremor, and an inability to remain in a stable or balanced position (postural instability). Eventually, dystonia develops that usually is focal, most commonly affecting the jaw, neck, trunk, or eyes. Some individuals only develop parkinsonism, which tends to be slowly progressive. Parkinsonism can be more severe, eventually resulting in an unstable gait and recurrent falls. Dystonia tends to be progressive and can become generalized or multifocal. Individuals with a combination of dystonia and parkinsonism can develop severe, life-threatening complications. The mean age of onset of X-linked dystonia-parkinsonism is 39 years of age. This disorder is caused by mutations in the TAF1 gene.
Dopa-responsive dystonia (DRD) is a general term for a few disorders in which generalized dystonia and parkinsonism are present and often dramatically respond to treatment with levodopa. Levodopa is an amino acid that is converted to dopamine. Dopamine is a brain chemical that serves as a neurotransmitter and is deficient in individuals with DRD. Affected individuals may be misdiagnosed as having cerebral palsy or Parkinson’s disease. Two main forms have been identified and are known as Segawa syndrome and tyrosine hydroxylase deficiency, although many other disorders may mimic dopa-responsive dystonia, including juvenile parkinsonism. Segawa syndrome is inherited in an autosomal dominant manner; tyrosine hydroxylase deficiency is inherited in an autosomal recessive manner. NORD has individual reports on both of these disorders. These disorders are also known as DYT5A and DYT5B.
DYT6-related dystonia is characterized by dystonia affecting the cranial, cervical and laryngeal areas. Dystonia tends to worsen and spread to other areas (generalized dystonia). Some individuals initially exhibit dystonia affecting the arms and later develop cranial and cervical dystonia symptoms. Most often, this disorder has a juvenile onset. DYT6-related dystonia is caused by mutations in the THAP1 gene and is inherited in an autosomal dominant manner.
Paroxysmal nonkinesigenic dyskinesia (PKND) is a disorder characterized by episodes of dystonia and choreoathetosis. Choreoathetosis is characterized by irregular, rapid, jerky movements that may occur in association with slow, writhing motions. Episodes may last from minutes to hours and can recur multiple times per day or per month. Episodes are often triggered by alcohol, caffeine, hunger, fatigue, stress and nicotine. Movement does not trigger an episode. Onset of the disorder can vary from early childhood to early adulthood. The disorder can potentially be disabling because it can interfere with basic activities such as chewing, swallowing, speaking, walking and coordinating movements of the arms and hands. PNKD is caused by mutations in the MR1 gene or the PNKD1 gene and is inherited in an autosomal dominant manner. In some cases, the disorder occurs randomly, for unknown reasons (sporadically). The disorder is also known as DYT8, paroxysmal dystonic choreoathetosis, or Mount-Reback syndrome.
Paroxysmal kinesigenic dyskinesia (PKD), also known as DYT10, is characterized by episodes of dystonia and choreoathetosis that are triggered by sudden movements or when startled. Episodes usually last seconds or minutes. In some cases, as many as 100 episodes can occur in a single day; in others as few as one a month may occur. In rare cases, jerky, flailing or swinging movements (ballism) may also be seen. Some affected individuals may experience abnormal sensations (aura) in the affected area just before an attack occurs. Age of onset is usually in childhood or adolescence, but the disorder has been reported in individuals ranging from 4 to 57 years of age. PKD is caused by mutations in the PRRT2 gene and is inherited in an autosomal dominant manner.
Myoclonic dystonia, better known as DTY11 or myoclonus-dystonia, is characterized by rapid, involuntary, jerking movements (myoclonus) with or without sustained dystonic postures. Myoclonus most often affects the neck, trunk and upper arms. Less commonly, the legs are involved. Myoclonus is caused by muscle contractions or muscle relaxation and cannot be controlled by the affected individual. Affected individuals may also develop focal or segmental dystonia (e.g. writer’s cramp or cervical dystonia). Generally, dystonia does not worsen or progress to other areas. Additional symptoms that have been reported include panic attacks, anxiety, depression and obsessive-compulsive disorder. Onset is usually during childhood or adolescence. Most cases of myoclonus-dystonia are caused by mutations in the SGCE gene. The disorder is inherited in an autosomal dominant manner.
Rapid-onset dystonia-parkinsonism (RDP), also known as DYT12, is characterized by dystonic features and additional symptoms that resemble those seen in Parkinson’s disease (parkinsonism). Classic features include involuntary dystonic muscle spasms in the arms more often than the legs and prominent involvement of speech and swallowing muscles. Parkinsonian symptoms include involuntary, rhythmic, quivering movements (tremors), bradykinesia, and postural instability. Seizures have been reported in some cases. As the name suggests, symptoms usually develop rapidly over a period of a few hours or days, and often after a triggering event such as emotional stress, alcoholic binge drinking, childbirth or certain forms of exercise such as running. RDP is caused by mutations in the ATP1A3 gene and is inherited in an autosomal dominant manner. RDP usually begins in adolescence or young adulthood and stabilizes within approximately 4 weeks, with little progression of the disorder thereafter, however the availability of genetic testing has revealed that the clinical spectrum of the disorder is wider than initially appreciated, including alternating hemiplegia of childhood (For more information on this condition, choose “alternating hemiplegia of childhood” in the Rare Disease Database.)
Paroxysmal exertion-induced dyskinesia, also known as DYT18, is characterized by the combination of chorea, athetosis, and dystonia that primarily affects excessively exercised areas of the body. The legs are most commonly affected. An episode may last from a few minutes to more than an hour and occurs after prolonged physical activity or exercise. In some cases, additional symptoms have been reported including seizures, hemolytic anemia and migraines Paroxysmal exertion-induced dyskinesia is caused by mutations in the SCL2A1 gene and is inherited in an autosomal dominant manner.
Acquired dystonia may be the result of environmental or disease-related damage to a part of the brain or central nervous system (See Causes section below). Acquired dystonia often presents with other neurological findings such as parkinsonism. The specific symptoms and severity of these disorders varies based upon the underlying causes, specific body areas involved, and other factors.
A specific form of acquired dystonia is tardive dyskinesia, which encompasses forms of dystonia that are induced by the use of certain drugs. Tardive dyskinesia causes quick repetitive movements without sustained postures. Tardive dystonia is generally considered a severe form of tardive dyskinesia characterized by muscle contractions resulting in slower, writhing movements. NORD has an individual report on tardive dyskinesia.
In some cases, dystonia occurs due to a known specific cause (acquired dystonia). Other cases are genetic and occur due to specific genetic mutations. Other cases occur randomly for no apparent reason, without a family history of the disorder (sporadically). In many cases, the exact underlying cause of dystonia is unknown or unproven (idiopathic). Most likely, many cases of dystonia develop due to multiple factors including genetic and environmental ones.
Conditions associated with acquired dystonia include brain injury (particularly due to lack of oxygen) during or around the time of birth (perinatal period), certain infections, reactions to certain drugs, brain trauma, or various vascular abnormalities such as stroke, arteriovenous malformations, or profuse, excessive bleeding (hemorrhaging). Dystonia can also result from other illnesses affecting the central nervous system.
Multiple genes have been associated with inherited dystonia. Researchers are actively seeking to locate additional genes and gene markers. Genetic factors are also believed to play a role in idiopathic and acquired dystonia, especially in individuals who have a 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).
Genetic mutations that have been identified to cause inherited forms of dystonia may be inherited in an autosomal recessive, autosomal dominant, X-linked or mitochondrial manner. Autosomal recessive genetic disorders occur when an individual inherits an abnormal copy of a gene from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Dominant genetic disorders may be marked by incomplete penetrance, which means that some individuals who inherit the gene for a dominant disorder will not be affected by the disorder. Variable expressivity can also occur, which means that widely varying signs and symptoms can occur among affected individuals with the same gene mutation.
X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off.” A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers if the other X chromosome from their mother is normal. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. In some females, known as heterozygotes, which inherit a single copy of the disease gene for an X-linked disorder, disease traits on the X chromosome may not always be masked by the normal gene on the other X chromosome. As a result, these females may exhibit some of the symptoms associated with the disorder.
Some forms of dystonia are also classified as mitochondrial diseases. These disorders are caused by errors (e.g. mutations) in the genetic material (DNA) of the mitochondria. Mitochondria, found by the hundreds within virtually every cell of the body, generate most of the cellular energy.
Several theories exists that attempt to explain the underlying mechanism of dystonia including abnormal functioning of or subtle abnormalities affecting certain areas of the brain including the basal ganglia, cerebellum, cortex, brainstem, and thalamus. Imbalances in neurotransmitters have also been studied. Neurotransmitters are chemicals that modify, amplify, or transmit nerve impulses from one nerve cell (neuron) to another, enabling nerve cells to communicate. Although the underlying mechanisms and causes of dystonia 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.
Dystonia can affect individuals of any age, gender, race, or ethnic background. It is estimated that as many as 300,000 people in North America may be affected by the various forms of dystonia. However, because many cases of dystonia go misdiagnosed or undiagnosed, determining the true frequency of dystonia in the general population is difficult. Focal forms of dystonia are approximately 10 times more common than generalized forms.
A diagnosis of dystonia is based upon identification of characteristic symptoms, a detailed patient and family history, and a thorough clinical evaluation. Evaluation by a movement disorder specialist may help to confirm a diagnosis of dystonia. Various, specialized tests may be recommended to rule out other conditions. Laboratory testing is essential in acquired dystonia to determine the underlying cause.
Molecular genetic testing can confirm a diagnosis of certain inherited forms of dystonia. Molecular genetic testing can detect mutations in the specific genes known to cause inherited dystonia, but is available only as a diagnostic service at specialized laboratories.
At this time, no curative therapies are available for dystonia. Current treatments target specific symptoms (symptomatic treatment) and are intended to relieve muscle spasms, pain and discomfort, and unnatural postures. No single treatment program is appropriate for every patient.
There are essentially three treatment options: oral medications, botulinum toxin injections, and surgery. These treatments may be used alone or in combination. In addition, physical and speech therapy may provide a helpful complement to medical treatment in specific cases.
There are no oral medications approved by the Food and Drug Administration (FDA) for use in dystonia. Among the oral medications used are those that affect the activity of neurotransmitters. Anticholinergic agents such as benztropine and trihexyphenidyl block the neurotransmitter acetylocholine, and benzodiazepines such as clonazepam, diazepam, or lorazepam block the neurotransmitter gamma-aminobutyric acid (GABA). These drugs are most effective in children with generalized dystonia. In adults, side effects are often dose limiting.
Some individuals particularly those with dopa-responsive dystonia (DRD) respond to treatment with very low doses of levodopa, a synthetic version of the neurotransmitter dopamine. Levodopa increases dopamine levels. In other cases with certain different forms of dystonia, affected individuals may respond to medications that block the activity of dopamine (antidopaminergic agents).
A muscle relaxant known as baclofen, which may help periodically to reduce muscle spasms, may be prescribed and delivered by means of an implantable pump that releases the drug directly into the area around the spinal cord. Baclofen can stimulate the body’s ability to process the neurotransmitter GABA.
There is no standard treatment for rapid-onset dystonia-parkinsonism (RDP), although levodopa/carbidopa medications and dopamine agonists (drugs that stimulate dopamine receptors in the absence of dopamine) may provide mild improvement for some affected individuals.
Botulinum toxin therapy is often used for certain forms of dystonia, particularly certain focal dystonias such as cervical dystonia and laryngeal dystonia. Botulinum toxin is a neurotoxin that is injected into muscles in very small doses. After injection into a muscle, the action of botulinum toxin is to interrupt nerve messages to the muscle, preventing the release of the neurotransmitter acetylcholine, which stimulates muscular contractions, and giving rise to weakness of that muscle. The effect of botulinum toxin on the muscle begins approximately 2-3 days following injection, peaks at around 4 weeks, and provides relief for approximately 3-6 months. When the effect of botulinum toxin wears off, the symptoms of dystonia recur. The degree of effectiveness of botulinum toxin will differ in each individual case.
Botulinum toxin is approved by the 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®). These brands are not interchangeable, and each should be administered as a unique drug. The FDA has a “black box” warning concerning the use of any of these toxins. A black box warning denotes that a drug known to effective for some individuals may cause serious side effects in others.
Surgery is generally reserved for those patients with severe dystonia who do not respond to drug therapy or cannot tolerate side effects as well as those with severe dystonia who become non-responsive to drug treatment. Deep brain stimulation (DBS) with an implantable pulse generator may be performed for some types of dystonia. DBS involves the surgical placement of very thin electrodes into certain areas of the brain such as the globus pallidus. The leads from these electrodes are then connected to a small device called a neurostimulator that is surgically implanted usually near the collarbone. These stimulators send small electrical pulses to the brain. After the DBS is placed, the stimulators are programmed for the optimal outcome. The electrical pulses block or interfere with the nerve signals that cause the symptoms of dystonia.
DBS has become the mainstay for surgical treatment of individuals with dystonia. Older surgical procedures such as thalamotomy or pallidotomy are rarely used anymore for the treatment of dystonia. These procedures involved the precise destruction of a tiny area of the brain in order to interrupt the nerve pathways responsible for the symptoms of dystonia.
Selective peripheral denervation in which the nerves to the dystonic muscles are severed has been reported to benefit patients with cervical dystonia who fail other therapies. However, this surgery requires a surgeon who is extensively trained both in the evaluation cervical dystonia and in the surgical procedure. Side effects from the surgery are not uncommon and following surgery, there is a long period of rehabilitation.
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DeLong MR. Dystonia. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:609.
DeLong MR. Embouchure Dystonia. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:613.
DeLong MR. Rapid-Onset Dystonia-Parkinsonism. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:617-618.
Defazio G, Conte A, Gigante AF, Fabbrini G, Berardelli A. Is tremor in dystonia a phenotypic feature of dystonia? Neurology. 2015;84:1053-1059. http://www.ncbi.nlm.nih.gov/pubmed/25663232
Bressman SB, Saunders-Pullman R. Primary dystonia: moribund or viable? Mov Disord. 2013;28:906-913. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973177/
Peterson DA, Berque P, Jabusch HC, Altenmuller E, Frucht SJ. Rating scales for musician’s dystonia: the state of the art. Neurology. 2013;81:589-598. http://www.ncbi.nlm.nih.gov/pubmed/23884039
Fitzgerald JJ, Rosendal F, de Pennington N, et al. Long-term outcome of deep brain stimulation in generalized dystonia: a series of 60 cases. J Neurol Neurosurg Psychiatry. 2014;[Epub ahead of print]. http://www.ncbi.nlm.nih.gov/pubmed/24691580
Skogseid IM. Dystonia – new advances in classification, genetics, pathophysiology and treatment. Acta Neurol Scand Suppl. 2014;198:13-19. http://www.ncbi.nlm.nih.gov/pubmed/24588501
Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863-873. http://www.ncbi.nlm.nih.gov/pubmed/23649720
Charlesworth G, Bhatia KP, Wood NW. The genetics of dystonia: new twists in an old tale. Brain. 2013;136:2017-2037. http://www.ncbi.nlm.nih.gov/pubmed/23775978
Jinnah HA, Berardelli A, Comella C, et al. The focal dystonias: current views and challenges for future research. Mov Disord. 2013;28:926-943. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733486/
Jankovic J. Medical treatment of dystonia. Mov Disord. 2013;28:1001-1012. http://www.ncbi.nlm.nih.gov/pubmed/23893456
Albanese A, Lalli S. Update on dystonia. Curr Opin Neurol. 2012;25:483-490. http://www.ncbi.nlm.nih.gov/pubmed/22610459
Torres-Russotto D, Perlmutter JS. Task-specific dystonias. Ann NY Acad Sci. 2008;1142:179-199. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652841/
Albanese A. Dystonia: clinical approach. Parkinsonism Relat Disord. 2007;13:S356-S3661. http://www.ncbi.nlm.nih.gov/pubmed/18267264
Nemeth AH. The genetics of primary dystonias and related disorders. Brain. 2001;125:695-721. http://www.ncbi.nlm.nih.gov/pubmed/11912106
Klein C, Marras C, Munchau A. Dystonia Overview. 2003 Oct 28 [Updated 2014 May 1]. In: Pagon RA, Bird TD, Dolan CR, et al., GeneReviews. Internet. Seattle, WA: University of Washington, Seattle; 1993-. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1155/
Comella C. Treatment of Dystonia. UpToDate, Inc. 2013 Dec 20. Available at: http://www.uptodate.com/contents/treatment-of-dystonia?source=search_result&search=dystonia&selectedTitle=2~135 Accessed on: June 1, 2015.
Comella C. Classification and Evaluation of Dystonia. UpToDate, Inc. 2014 April 14. http://www.uptodate.com/contents/classification-and-evaluation-of-dystonia?source=search_result&search=dystonia&selectedTitle=1~135 Accessed on: June 1, 2015.
Patil VK, Chawla J. Primary Torsion Dystonia. Emedicine Journal, December 8 2014. Available at: http://emedicine.medscape.com/article/1150643-overview Accessed on: June 1, 2015.
National Institute of Neurological Disorders and Stroke. Dystonias Fact Sheet. February 23, 2015. Available at: http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Accessed On: June 1, 2015.