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Dystonia

Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures.[3] The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles.[4]

Dystonia
A person with medication-induced dystonia
SpecialtyNeurology
Complicationsphysical disabilities (contractures, torticollis),[1] pain and fatigue[2]
Causeshereditary (DYT1); birth injury; head trauma; medication; infection; toxins
Diagnostic methodgenetic testing, electromyography, blood tests, MRI or CT scan
Treatmentmedication, physical therapy, botulinum toxin injection, deep brain stimulation
Medicationanticholinergics, dopamine agonists

The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to pharmaceutical drugs, particularly neuroleptics,[3] or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation.

Classification edit

There are multiple types of dystonia, and many diseases and conditions may cause dystonia.

Dystonia is classified by:

  1. Clinical characteristics such as age of onset, body distribution, nature of the symptoms, and associated features such as additional movement disorders or neurological symptoms, and
  2. Cause (which includes changes or damage to the nervous system and inheritance).[4]

Physicians use these classifications to guide diagnosis and treatment.

Types edit

Generalized dystonias edit

For example, dystonia musculorum deformans (Oppenheim, Flatau-Sterling syndrome): [6]

  • Normal birth history and milestones
  • Autosomal dominant
  • Childhood onset
  • Starts in lower limbs and spreads upwards

Also known as torsion dystonia or idiopathic torsion dystonia (old terminology "dystonia musculorum deformans").

Focal dystonias edit

These most common dystonias are typically classified as follows:

Name Location Description
Anismus muscles of the rectum Causes painful defecation, constipation; may be complicated by encopresis or fecal incontinence.
Cervical dystonia (spasmodic torticollis) muscles of the neck Causes the head to rotate to one side, to pull down towards the chest, or back, or a combination of these postures.
Blepharospasm muscles around the eyes The patient experiences rapid blinking of the eyes or even their forced closure causing functional blindness.
Oculogyric crisis muscles of eyes and head An extreme and sustained (usually) upward deviation of the eyes often with convergence causing diplopia (double vision). It is frequently associated with backward and lateral flexion of the neck and either widely opened mouth or jaw clenching. Frequently a result of antiemetics such as the neuroleptics (e.g., prochlorperazine) or metoclopramide. Can be caused by Chlorpromazine.
Oromandibular dystonia muscles of the jaw and muscles of tongue Causes distortions of the mouth and tongue.
Spasmodic dysphonia/Laryngeal dystonia muscles of larynx Causes the voice to sound broken, become hoarse, sometimes reducing it to a whisper.
Focal hand dystonia (also known as musician's or writer's cramp). single muscle or small group of muscles in the hand It interferes with activities such as writing or playing a musical instrument by causing involuntary muscular contractions. The condition is sometimes "task-specific", meaning that it is generally apparent during only certain activities. Focal hand dystonia is neurological in origin and is not due to normal fatigue. The loss of precise muscle control and continuous unintentional movement results in painful cramping and abnormal positioning that makes continued use of the affected body parts impossible.

The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige's syndrome.

Genetic/primary edit

Symbol OMIM Gene Locus Alt Name
DYT1 128100 TOR1A 9q34 Early-onset torsion dystonia
DYT2 224500 HPCA 1p35-p34.2 Autosomal recessive primary isolated dystonia
DYT3 314250 TAF1 Xq13 X-linked dystonia parkinsonism
DYT4 128101 TUBB4[7] 19p13.12-13 Autosomal dominant whispering dysphonia
DYT5a 128230 GCH1 14q22.1-q22.2 Autosomal dominant dopamine-responsive dystonia
DYT5b 191290 TH 11p15.5 Autosomal recessive dopamine-responsive dystonia
DYT6 602629 THAP1 8p11.21 Autosomal dominant dystonia with cranio-cervical predilection
DYT7 602124 unknown 18p (questionable) Autosomal dominant primary focal cervical dystonia
DYT8 118800 MR1 2q35 Paroxysmal nonkinesigenic dyskinesia
DYT9 601042 SLC2A1 1p35-p31.3 Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18)
DYT10 128200 PRRT2 16p11.2-q12.1 Paroxysmal kinesigenic dyskinesia
DYT11 159900 SGCE 7q21 Myoclonic dystonia
DYT12 128235 ATP1A3 19q12-q13.2 Rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood
DYT13 607671 unknown, near D1S2667[8] 1p36.32-p36.13 Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family
DYT14 See DYT5
DYT15 607488 unknown 18p11[9] Myoclonic dystonia not linked to SGCE mutations
DYT16 612067 PRKRA 2q31.3 Autosomal recessive young onset dystonia parkinsonism
DYT17 612406 unknown, near D20S107[10] 20p11.2-q13.12 Autosomal recessive dystonia in one family
DYT18 612126 SLC2A1 1p35-p31.3 Paroxysmal exercise-induced dyskinesia
DYT19 611031 probably PRRT2 16q13-q22.1 Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10
DYT20 611147 unknown 2q31 Paroxysmal nonkinesigenic dyskinesia 2
DYT21 614588 unknown 2q14.3-q21.3 Late-onset torsion dystonia
DYT24 610110 ANO3[11] 11p14.2 Autosomal dominant cranio-cervical dystonia with prominent tremor

There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor. Some of these cases have responded well to alcohol.[12][13]

Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2.[14] Another report has linked THAP1 and SLC20A2 to dystonia.[15]

Signs and symptoms edit

Hyperglycemia-induced involuntary movements, which, in this case, did not consist of typical hemiballismus but rather of hemichorea (dance-like movements of one side of the body; initial movements of the right arm in the video) and bilateral dystonia (slow muscle contraction in legs, chest, and right arm) in a 62-year-old Japanese woman with type 1 diabetes.

Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many individuals with the condition have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking.[16]

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Affected individuals may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, temporomandibular joint disorder, Tourette's syndrome, conversion disorder or other neuromuscular movement disorders. It has been found that the prevalence of dystonia is high in individuals with Huntington's disease, where the most common clinical presentations are internal shoulder rotation, sustained fist clenching, knee flexion, and foot inversion.[17] Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication.[17]

Causes edit

Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is caused by a pathology of the central nervous system, likely originating in those parts of the brain concerned with motor function—such as the basal ganglia and the GABA (gamma-aminobutyric acid) producing Purkinje neurons. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions.[18]

Meningitis and encephalitis caused by viral, bacterial, and fungal infections of the brain have been associated with dystonia. The main mechanism is inflammation of the blood vessels, causing restriction of blood flow to the basal ganglia. Other mechanisms include direct nerve injury by the organism or a toxin, or autoimmune mechanisms.[19]

Malfunction of the sodium-potassium pump may be a factor in some dystonias. The Na+
-K+
pump has been shown to control and set the intrinsic activity mode of cerebellar Purkinje neurons.[20] This suggests that the pump might not simply be a homeostatic, "housekeeping" molecule for ionic gradients; but could be a computational element in the cerebellum and the brain.[21] Indeed, an ouabain block of Na+
-K+
pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia.[22] Ataxia is observed for lower ouabain concentrations, dystonia is observed at higher ouabain concentrations. A mutation in the Na+
-K+
pump (ATP1A3 gene) can cause rapid onset dystonia parkinsonism.[23] The parkinsonism aspect of this disease may be attributable to malfunctioning Na+
-K+
pumps in the basal ganglia; the dystonia aspect may be attributable to malfunctioning Na+
-K+
pumps in the cerebellum (that act to corrupt its input to the basal ganglia) possibly in Purkinje neurons.[20]

Cerebellum issues causing dystonia is described by Filip et al. 2013: "Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease. It has been suggested that the cerebellum plays an important role in dystonia etiology, from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy, and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions. It is proposed that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways, but the cortico-ponto-cerebello-thalamo-cortical loop as well. Even in the absence of traditional "cerebellar signs" in most dystonia patients, there are more subtle indications of cerebellar dysfunction. It is clear that as long as the cerebellum's role in dystonia genesis remains unexamined, it will be difficult to significantly improve the current standards of dystonia treatment or to provide curative treatment."[24]

Treatment edit

Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or selective denervation surgery.[25] Almost all treatments have negative side-effects and risks. A geste antagoniste is a physical gesture or position (such as touching one's chin) that temporarily interrupts dystonia, it is also known as a sensory trick.[26] Patients may be aware of the presence of a geste antagoniste that provides some relief.[27] Therapy for dystonia can involve prosthetics that passively simulate the stimulation.[28]

Physical intervention edit

While research in the area of effectiveness of physical therapy intervention for dystonia remains weak,[29] there is reason to believe that rehabilitation can benefit dystonia patients.[30] Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder.[31] A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting,[32] therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural training and bracing,[30] neuromuscular electrical stimulation, constraint-induced movement therapy, activity and environmental modification, and gait training.[31]

Recent research has investigated further into the role of physiotherapy in the treatment of dystonia. A recent study showed that reducing psychological stress, in conjunction with exercise, is beneficial for reducing truncal dystonia in patients with Parkinson's disease.[33] Another study emphasized progressive relaxation, isometric muscle endurance, dynamic strength, coordination, balance, and body perception, seeing significant improvements to patients' quality of life after 4 weeks.[34]

Since the root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity, making it possible for patients to recover substantial function that was lost due to Cervical Dystonia, hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians' dystonia.[35][36][37][38][39]

Due to the rare and variable nature of dystonia, research investigating the effectiveness of these treatments is limited. There is no gold standard for physiotherapy rehabilitation.[33] To date, focal cervical dystonia has received the most research attention;[31] however, study designs are poorly controlled and limited to small sample sizes.[29]

Baclofen edit

A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia. The pump delivers baclofen via a catheter to the thecal space surrounding the spinal cord. The pump itself is placed in the abdomen. It can be refilled periodically by access through the skin. Baclofen can also be taken in tablet form[40]

Botulinum toxin injection edit

Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3–6 months, depending on the kind of dystonia. Botox or Dysport injections have the advantage of ready availability (the same form is used for cosmetic surgery) and the effects are not permanent. There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups, causing weakness or paralysis in them. The injections must be repeated, as the effects wear off and around 15% of recipients develop immunity to the toxin. There is a Type A and a Type B toxin approved for treatment of dystonia; often, those that develop resistance to Type A may be able to use Type B.[41]

Muscle relaxants edit

Clonazepam, a benzodiazepine, is also sometimes prescribed. However, for most, their effects are limited and side-effects like mental confusion, sedation, mood swings, and short-term memory loss occur.

Ketogenic diet edit

One complex case study found that a ketogenic type diet may have been helpful in reducing symptoms associated with alternating hemiplegia of childhood (AHC) of a young child. However, as the researchers noted, their results could have been corollary in nature and not due to the diet itself, though future research is warranted.[42]

Surgery edit

 
Schematic representation of a patient with cervical dystonia, with deep brain stimulation (DBS) electrodes implanted in the internal globus pallidus (GPi)

Surgery, such as the denervation of selected muscles, may also provide some relief; however, the destruction of nerves in the limbs or brain is not reversible and should be considered only in the most extreme cases. Recently, the procedure of deep brain stimulation (DBS) has proven successful in a number of cases of severe generalised dystonia.[43] DBS as treatment for medication-refractory dystonia, on the other hand, may increase the risk of suicide in patients. However, reference data of patients without DBS therapy are lacking.[44]

History edit

The Italian Bernardino Ramazzini provided one of the first descriptions of task-specific dystonia in 1713 in a book of occupational diseases, The Morbis Artificum.[45] In chapter II of this book's Supplementum, Ramazzini noted that "Scribes and Notaries" may develop "incessant movement of the hand, always in the same direction … the continuous and almost tonic strain on the muscles... that results in failure of power in the right hand". A report from the British Civil Service also contained an early description of writer's cramp. In 1864, Solly coined the term "scrivener's palsy" for this condition. These historical reports usually attributed the etiology of the motor abnormalities to overuse. Then, dystonia were reported in detail in 1911, when Hermann Oppenheim,[46] Edward Flatau and Wladyslaw Sterling described some Jewish children affected by a syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia. Some decades later, in 1975, the first international conference on dystonia was held in New York. It was then recognized that, in addition to severe generalized forms, the dystonia phenotype also encompasses poorly-progressive focal and segmental cases with onset in adulthood, such as blepharospasm, torticollis and writer's cramp. These forms were previously considered independent disorders and were mainly classified among neuroses. A modern definition of dystonia was worded some years later, in 1984. During the following years it became evident that dystonia syndromes are numerous and diversified, new terminological descriptors (e.g., dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced. The clinical complexity of dystonia was then fully recognized.[47]

See also edit

References edit

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External links edit

  • A Boston Marathon record is about to be set – by a man with a movement disorder in The Washington Post
  • GeneReview/NIH/UW entry on Dystonia Overview
  • GeneReviews/NCBI/NIH/UW entry on Early-Onset Primary Dystonia
  • Film on Dystonia from Public Broadcasting Service
  • A story of one woman's struggle with dystonia at MSNBC.com

dystonia, confused, with, dystopia, neurological, hyperkinetic, movement, disorder, which, sustained, repetitive, muscle, contractions, occur, involuntarily, resulting, twisting, repetitive, movements, abnormal, fixed, postures, movements, resemble, tremor, of. Not to be confused with dystopia Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily resulting in twisting and repetitive movements or abnormal fixed postures 3 The movements may resemble a tremor Dystonia is often intensified or exacerbated by physical activity and symptoms may progress into adjacent muscles 4 DystoniaA person with medication induced dystoniaSpecialtyNeurologyComplicationsphysical disabilities contractures torticollis 1 pain and fatigue 2 Causeshereditary DYT1 birth injury head trauma medication infection toxinsDiagnostic methodgenetic testing electromyography blood tests MRI or CT scanTreatmentmedication physical therapy botulinum toxin injection deep brain stimulationMedicationanticholinergics dopamine agonistsThe disorder may be hereditary or caused by other factors such as birth related or other physical trauma infection poisoning e g lead poisoning or reaction to pharmaceutical drugs particularly neuroleptics 3 or stress Treatment must be highly customized to the needs of the individual and may include oral medications chemodenervation botulinum neurotoxin injections physical therapy or other supportive therapies and surgical procedures such as deep brain stimulation Contents 1 Classification 1 1 Types 1 2 Generalized dystonias 1 3 Focal dystonias 1 4 Genetic primary 2 Signs and symptoms 3 Causes 4 Treatment 4 1 Physical intervention 4 1 1 Baclofen 4 1 2 Botulinum toxin injection 4 1 3 Muscle relaxants 4 1 4 Ketogenic diet 4 2 Surgery 5 History 6 See also 7 References 8 External linksClassification editThis section may be in need of reorganization to comply with Wikipedia s layout guidelines The reason given is Subsections should be integrated into text short lists should be converted to full sentences in coherent paragraphs its entirety should be integrated into the text of the remainder of the article Please help by editing the article to make improvements to the overall structure January 2024 Learn how and when to remove this template message There are multiple types of dystonia and many diseases and conditions may cause dystonia Dystonia is classified by Clinical characteristics such as age of onset body distribution nature of the symptoms and associated features such as additional movement disorders or neurological symptoms and Cause which includes changes or damage to the nervous system and inheritance 4 Physicians use these classifications to guide diagnosis and treatment Types edit Generalized Focal Psychogenic Acute dystonic reaction 5 Vegetative vascularGeneralized dystonias edit For example dystonia musculorum deformans Oppenheim Flatau Sterling syndrome 6 Normal birth history and milestones Autosomal dominant Childhood onset Starts in lower limbs and spreads upwardsAlso known as torsion dystonia or idiopathic torsion dystonia old terminology dystonia musculorum deformans Focal dystonias edit Main article Focal dystonia These most common dystonias are typically classified as follows Name Location DescriptionAnismus muscles of the rectum Causes painful defecation constipation may be complicated by encopresis or fecal incontinence Cervical dystonia spasmodic torticollis muscles of the neck Causes the head to rotate to one side to pull down towards the chest or back or a combination of these postures Blepharospasm muscles around the eyes The patient experiences rapid blinking of the eyes or even their forced closure causing functional blindness Oculogyric crisis muscles of eyes and head An extreme and sustained usually upward deviation of the eyes often with convergence causing diplopia double vision It is frequently associated with backward and lateral flexion of the neck and either widely opened mouth or jaw clenching Frequently a result of antiemetics such as the neuroleptics e g prochlorperazine or metoclopramide Can be caused by Chlorpromazine Oromandibular dystonia muscles of the jaw and muscles of tongue Causes distortions of the mouth and tongue Spasmodic dysphonia Laryngeal dystonia muscles of larynx Causes the voice to sound broken become hoarse sometimes reducing it to a whisper Focal hand dystonia also known as musician s or writer s cramp single muscle or small group of muscles in the hand It interferes with activities such as writing or playing a musical instrument by causing involuntary muscular contractions The condition is sometimes task specific meaning that it is generally apparent during only certain activities Focal hand dystonia is neurological in origin and is not due to normal fatigue The loss of precise muscle control and continuous unintentional movement results in painful cramping and abnormal positioning that makes continued use of the affected body parts impossible The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige s syndrome Genetic primary edit Symbol OMIM Gene Locus Alt NameDYT1 128100 TOR1A 9q34 Early onset torsion dystoniaDYT2 224500 HPCA 1p35 p34 2 Autosomal recessive primary isolated dystoniaDYT3 314250 TAF1 Xq13 X linked dystonia parkinsonismDYT4 128101 TUBB4 7 19p13 12 13 Autosomal dominant whispering dysphoniaDYT5a 128230 GCH1 14q22 1 q22 2 Autosomal dominant dopamine responsive dystoniaDYT5b 191290 TH 11p15 5 Autosomal recessive dopamine responsive dystoniaDYT6 602629 THAP1 8p11 21 Autosomal dominant dystonia with cranio cervical predilectionDYT7 602124 unknown 18p questionable Autosomal dominant primary focal cervical dystoniaDYT8 118800 MR1 2q35 Paroxysmal nonkinesigenic dyskinesiaDYT9 601042 SLC2A1 1p35 p31 3 Episodic choreoathetosis spasticity now known to be synonymous with DYT18 DYT10 128200 PRRT2 16p11 2 q12 1 Paroxysmal kinesigenic dyskinesiaDYT11 159900 SGCE 7q21 Myoclonic dystoniaDYT12 128235 ATP1A3 19q12 q13 2 Rapid onset dystonia parkinsonism and alternating hemiplegia of childhoodDYT13 607671 unknown near D1S2667 8 1p36 32 p36 13 Autosomal dominant cranio cervical upper limb dystonia in one Italian familyDYT14 See DYT5DYT15 607488 unknown 18p11 9 Myoclonic dystonia not linked to SGCE mutationsDYT16 612067 PRKRA 2q31 3 Autosomal recessive young onset dystonia parkinsonismDYT17 612406 unknown near D20S107 10 20p11 2 q13 12 Autosomal recessive dystonia in one familyDYT18 612126 SLC2A1 1p35 p31 3 Paroxysmal exercise induced dyskinesiaDYT19 611031 probably PRRT2 16q13 q22 1 Episodic kinesigenic dyskinesia 2 probably synonymous with DYT10DYT20 611147 unknown 2q31 Paroxysmal nonkinesigenic dyskinesia 2DYT21 614588 unknown 2q14 3 q21 3 Late onset torsion dystoniaDYT24 610110 ANO3 11 11p14 2 Autosomal dominant cranio cervical dystonia with prominent tremorThere is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine D2 receptor Some of these cases have responded well to alcohol 12 13 Other genes that have been associated with dystonia include CIZ1 GNAL ATP1A3 and PRRT2 14 Another report has linked THAP1 and SLC20A2 to dystonia 15 Signs and symptoms edit source source source source Hyperglycemia induced involuntary movements which in this case did not consist of typical hemiballismus but rather of hemichorea dance like movements of one side of the body initial movements of the right arm in the video and bilateral dystonia slow muscle contraction in legs chest and right arm in a 62 year old Japanese woman with type 1 diabetes Symptoms vary according to the kind of dystonia involved In most cases dystonia tends to lead to abnormal posturing in particular on movement Many individuals with the condition have continuous pain cramping and relentless muscle spasms due to involuntary muscle movements Other motor symptoms are possible including lip smacking 16 An accurate diagnosis may be difficult because of the way the disorder manifests itself Affected individuals may be diagnosed as having similar and perhaps related disorders including Parkinson s disease essential tremor carpal tunnel syndrome temporomandibular joint disorder Tourette s syndrome conversion disorder or other neuromuscular movement disorders It has been found that the prevalence of dystonia is high in individuals with Huntington s disease where the most common clinical presentations are internal shoulder rotation sustained fist clenching knee flexion and foot inversion 17 Risk factors for increased dystonia in patients with Huntington s disease include long disease duration and use of antidopaminergic medication 17 Causes editPrimary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system Researchers suspect it is caused by a pathology of the central nervous system likely originating in those parts of the brain concerned with motor function such as the basal ganglia and the GABA gamma aminobutyric acid producing Purkinje neurons The precise cause of primary dystonia is unknown In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions 18 Meningitis and encephalitis caused by viral bacterial and fungal infections of the brain have been associated with dystonia The main mechanism is inflammation of the blood vessels causing restriction of blood flow to the basal ganglia Other mechanisms include direct nerve injury by the organism or a toxin or autoimmune mechanisms 19 Malfunction of the sodium potassium pump may be a factor in some dystonias The Na K pump has been shown to control and set the intrinsic activity mode of cerebellar Purkinje neurons 20 This suggests that the pump might not simply be a homeostatic housekeeping molecule for ionic gradients but could be a computational element in the cerebellum and the brain 21 Indeed an ouabain block of Na K pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia 22 Ataxia is observed for lower ouabain concentrations dystonia is observed at higher ouabain concentrations A mutation in the Na K pump ATP1A3 gene can cause rapid onset dystonia parkinsonism 23 The parkinsonism aspect of this disease may be attributable to malfunctioning Na K pumps in the basal ganglia the dystonia aspect may be attributable to malfunctioning Na K pumps in the cerebellum that act to corrupt its input to the basal ganglia possibly in Purkinje neurons 20 Cerebellum issues causing dystonia is described by Filip et al 2013 Although dystonia has traditionally been regarded as a basal ganglia dysfunction recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease It has been suggested that the cerebellum plays an important role in dystonia etiology from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions It is proposed that dystonia is a large scale dysfunction involving not only cortico basal ganglia thalamo cortical pathways but the cortico ponto cerebello thalamo cortical loop as well Even in the absence of traditional cerebellar signs in most dystonia patients there are more subtle indications of cerebellar dysfunction It is clear that as long as the cerebellum s role in dystonia genesis remains unexamined it will be difficult to significantly improve the current standards of dystonia treatment or to provide curative treatment 24 Treatment editVarious treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs neuro suppression or selective denervation surgery 25 Almost all treatments have negative side effects and risks A geste antagoniste is a physical gesture or position such as touching one s chin that temporarily interrupts dystonia it is also known as a sensory trick 26 Patients may be aware of the presence of a geste antagoniste that provides some relief 27 Therapy for dystonia can involve prosthetics that passively simulate the stimulation 28 Physical intervention edit While research in the area of effectiveness of physical therapy intervention for dystonia remains weak 29 there is reason to believe that rehabilitation can benefit dystonia patients 30 Physical therapy can be utilized to manage changes in balance mobility and overall function that occur as a result of the disorder 31 A variety of treatment strategies can be employed to address the unique needs of each individual Potential treatment interventions include splinting 32 therapeutic exercise manual stretching soft tissue and joint mobilization postural training and bracing 30 neuromuscular electrical stimulation constraint induced movement therapy activity and environmental modification and gait training 31 Recent research has investigated further into the role of physiotherapy in the treatment of dystonia A recent study showed that reducing psychological stress in conjunction with exercise is beneficial for reducing truncal dystonia in patients with Parkinson s disease 33 Another study emphasized progressive relaxation isometric muscle endurance dynamic strength coordination balance and body perception seeing significant improvements to patients quality of life after 4 weeks 34 Since the root of the problem is neurological doctors have explored sensorimotor retraining activities to enable the brain to rewire itself and eliminate dystonic movements The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity making it possible for patients to recover substantial function that was lost due to Cervical Dystonia hand dystonia blepharospasm oromandibular dystonia dysphonia and musicians dystonia 35 36 37 38 39 Due to the rare and variable nature of dystonia research investigating the effectiveness of these treatments is limited There is no gold standard for physiotherapy rehabilitation 33 To date focal cervical dystonia has received the most research attention 31 however study designs are poorly controlled and limited to small sample sizes 29 Baclofen edit A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia The pump delivers baclofen via a catheter to the thecal space surrounding the spinal cord The pump itself is placed in the abdomen It can be refilled periodically by access through the skin Baclofen can also be taken in tablet form 40 Botulinum toxin injection edit Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3 6 months depending on the kind of dystonia Botox or Dysport injections have the advantage of ready availability the same form is used for cosmetic surgery and the effects are not permanent There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups causing weakness or paralysis in them The injections must be repeated as the effects wear off and around 15 of recipients develop immunity to the toxin There is a Type A and a Type B toxin approved for treatment of dystonia often those that develop resistance to Type A may be able to use Type B 41 Muscle relaxants edit Clonazepam a benzodiazepine is also sometimes prescribed However for most their effects are limited and side effects like mental confusion sedation mood swings and short term memory loss occur Ketogenic diet edit One complex case study found that a ketogenic type diet may have been helpful in reducing symptoms associated with alternating hemiplegia of childhood AHC of a young child However as the researchers noted their results could have been corollary in nature and not due to the diet itself though future research is warranted 42 Surgery edit nbsp Schematic representation of a patient with cervical dystonia with deep brain stimulation DBS electrodes implanted in the internal globus pallidus GPi Surgery such as the denervation of selected muscles may also provide some relief however the destruction of nerves in the limbs or brain is not reversible and should be considered only in the most extreme cases Recently the procedure of deep brain stimulation DBS has proven successful in a number of cases of severe generalised dystonia 43 DBS as treatment for medication refractory dystonia on the other hand may increase the risk of suicide in patients However reference data of patients without DBS therapy are lacking 44 History editThe Italian Bernardino Ramazzini provided one of the first descriptions of task specific dystonia in 1713 in a book of occupational diseases The Morbis Artificum 45 In chapter II of this book s Supplementum Ramazzini noted that Scribes and Notaries may develop incessant movement of the hand always in the same direction the continuous and almost tonic strain on the muscles that results in failure of power in the right hand A report from the British Civil Service also contained an early description of writer s cramp In 1864 Solly coined the term scrivener s palsy for this condition These historical reports usually attributed the etiology of the motor abnormalities to overuse Then dystonia were reported in detail in 1911 when Hermann Oppenheim 46 Edward Flatau and Wladyslaw Sterling described some Jewish children affected by a syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia Some decades later in 1975 the first international conference on dystonia was held in New York It was then recognized that in addition to severe generalized forms the dystonia phenotype also encompasses poorly progressive focal and segmental cases with onset in adulthood such as blepharospasm torticollis and writer s cramp These forms were previously considered independent disorders and were mainly classified among neuroses A modern definition of dystonia was worded some years later in 1984 During the following years it became evident that dystonia syndromes are numerous and diversified new terminological descriptors e g dystonia plus heredodegenerative dystonias etc and additional classification schemes were introduced The clinical complexity of dystonia was then fully recognized 47 See also edit nbsp Medicine portalExtrapyramidal symptoms Hypertonia Sydenham s chorea Ulegyria brain condition with dystonia symptoms References edit Dystonia BMJ Best Practice Retrieved 21 May 2020 Dystonia NCH Healthcare System Mayo Foundation for Medical Education and Research 8 March 2006 Retrieved 21 May 2020 a b Dystonias Fact Sheet National Institute of Neurological Disorders and Stroke Archived from the original on 23 April 2018 Retrieved 2 May 2018 a b Balint B Bhatia KP August 2014 Dystonia an update on phenomenology classification pathogenesis and treatment Current Opinion in Neurology 27 4 468 476 doi 10 1097 WCO 0000000000000114 PMID 24978640 Hayes CM Down on the Pharm All About Acute Dystonic Reaction EMSvillage com Archived from the original on 15 November 2006 Kamm C November 2006 Early onset torsion dystonia Oppenheim s dystonia Orphanet Journal of Rare Diseases 1 1 48 doi 10 1186 1750 1172 1 48 PMC 1693547 PMID 17129379 Hersheson J Mencacci NE Davis M MacDonald N Trabzuni D Ryten M et al April 2013 Mutations in the autoregulatory domain of b tubulin 4a cause hereditary dystonia Annals of Neurology 73 4 546 553 doi 10 1002 ana 23832 PMC 3698699 PMID 23424103 Valente EM Bentivoglio AR Cassetta E Dixon PH Davis MB Ferraris A et al March 2001 DYT13 a novel primary torsion dystonia locus maps to chromosome 1p36 13 36 32 in an Italian family with cranial cervical or upper limb onset Annals of Neurology 49 3 362 366 doi 10 1002 ana 73 PMID 11261511 S2CID 20850908 Grimes DA Han F Lang AE St George Hyssop P Racacho L Bulman DE October 2002 A novel locus for inherited myoclonus dystonia on 18p11 Neurology 59 8 1183 1186 doi 10 1212 WNL 59 8 1183 PMID 12391345 S2CID 22416848 Chouery E Kfoury J Delague V Jalkh N Bejjani P Serre JL Megarbane A October 2008 A novel locus for autosomal recessive primary torsion dystonia DYT17 maps to 20p11 22 q13 12 Neurogenetics 9 4 287 293 doi 10 1007 s10048 008 0142 4 PMID 18688663 S2CID 20343435 Charlesworth G Plagnol V Holmstrom KM Bras J Sheerin UM Preza E et al December 2012 Mutations in ANO3 cause dominant craniocervical dystonia ion channel implicated in pathogenesis American Journal of Human Genetics 91 6 1041 1050 doi 10 1016 j ajhg 2012 10 024 PMC 3516598 PMID 23200863 Cassim F October 2003 Myoclonic dystonia Myoclonic dystonia Revue Neurologique in French 159 10 Pt 1 892 899 PMID 14615678 Archived from the original on 11 May 2020 Retrieved 22 November 2008 Vidailhet M Tassin J Durif F Nivelon Chevallier A Agid Y Brice A Durr A May 2001 A major locus for several phenotypes of myoclonus dystonia on chromosome 7q Neurology 56 9 1213 1216 doi 10 1212 WNL 56 9 1213 PMID 11342690 S2CID 10492653 Fuchs T Ozelius LJ December 2013 Genetics in dystonia an update Current Neurology and Neuroscience Reports 13 12 410 doi 10 1007 s11910 013 0410 z PMC 3877920 PMID 24136457 Baker M Strongosky AJ Sanchez Contreras MY Yang S Ferguson W Calne DB et al March 2014 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia Neurogenetics 15 1 23 30 doi 10 1007 s10048 013 0378 5 PMC 3969760 PMID 24135862 Burda A Webster K Leikin JB Chan SB Stokes KA October 1999 Nefazadone induced acute dystonic reaction Veterinary and Human Toxicology 41 5 321 322 PMID 10509438 a b Louis ED Lee P Quinn L Marder K January 1999 Dystonia in Huntington s disease prevalence and clinical characteristics Movement Disorders 14 1 95 101 doi 10 1002 1531 8257 199901 14 1 lt 95 AID MDS1016 gt 3 0 CO 2 8 PMID 9918350 S2CID 7356997 Charlesworth G Bhatia KP Wood NW July 2013 The genetics of dystonia new twists in an old tale Brain 136 Pt 7 2017 2037 doi 10 1093 brain awt138 PMC 3692036 PMID 23775978 Janavs JL Aminoff MJ October 1998 Dystonia and chorea in acquired systemic disorders Journal of Neurology Neurosurgery and Psychiatry 65 4 436 445 doi 10 1136 jnnp 65 4 436 PMC 2170280 PMID 9771763 a b Forrest MD Wall MJ Press DA Feng J 2012 The sodium potassium pump controls the intrinsic firing of the cerebellar Purkinje neuron PLOS ONE 7 12 e51169 Bibcode 2012PLoSO 751169F doi 10 1371 journal pone 0051169 PMC 3527461 PMID 23284664 Forrest MD 2014 The sodium potassium pump is an information processing element in brain computation Frontiers in Physiology 5 472 doi 10 3389 fphys 2014 00472 PMC 4274886 PMID 25566080 Calderon DP Fremont R Kraenzlin F Khodakhah K March 2011 The neural substrates of rapid onset Dystonia Parkinsonism Nature Neuroscience 14 3 357 365 doi 10 1038 nn 2753 PMC 3430603 PMID 21297628 Cannon SC July 2004 Paying the price at the pump dystonia from mutations in a Na K ATPase Neuron 43 2 153 154 doi 10 1016 j neuron 2004 07 002 PMID 15260948 Filip P Lungu OV Bares M July 2013 Dystonia and the cerebellum a new field of interest in movement disorders Clinical Neurophysiology 124 7 1269 1276 doi 10 1016 j clinph 2013 01 003 PMID 23422326 S2CID 22185709 Mayo Clinic Staff 18 June 2022 Dystonia Mayo Clinic Retrieved 12 March 2023 Watts RL Koller WC 2004 Movement disorders neurologic principles amp practice McGraw Hill Professional pp 502 ISBN 978 0 07 137496 5 Retrieved 30 May 2011 Jahanshahi M February 2000 Factors that ameliorate or aggravate spasmodic torticollis Journal of Neurology Neurosurgery and Psychiatry 68 2 227 229 doi 10 1136 jnnp 68 2 227 PMC 1736788 PMID 10644795 Dystonia Treatment MayoClinic com Archived from the original on 2 June 2007 Retrieved 7 June 2007 a b Crowner BE November 2007 Cervical dystonia disease profile and clinical management Physical Therapy 87 11 1511 1526 doi 10 2522 ptj 20060272 PMID 17878433 a b Lubarr N Bressman S June 2011 Treatment of generalized dystonia Current Treatment Options in Neurology 13 3 274 289 doi 10 1007 s11940 011 0122 0 PMID 21455718 S2CID 21253455 a b c Myers KJ Bour B 2009 The Role of Physical Therapy in the Management of Dystonia In Okun M S ed The Dystonia Patient A Guide to Practical Management New York Demos Medical pp 117 48 ISBN 978 1 933864 62 4 OCLC 429666586 Priori A Pesenti A Cappellari A Scarlato G Barbieri S August 2001 Limb immobilization for the treatment of focal occupational dystonia Neurology 57 3 405 409 doi 10 1212 WNL 57 3 405 PMID 11502904 S2CID 36440551 a b Kawamichi K Taichi H Orie I Mineta T Sawada Y Shimamura M Matsumoto K Kawamura K 2011 Effect of Rehabilitation on Parkinson s Disease with Truncal Dystonia PDF Journal of Tokushima 2 47 50 Retrieved 6 May 2012 permanent dead link Zetterberg L Halvorsen K Farnstrand C Aquilonius SM Lindmark B 2009 Physiotherapy in cervical dystonia six experimental single case studies Physiotherapy Theory and Practice 24 4 275 290 doi 10 1080 09593980701884816 PMID 18574753 S2CID 20722262 Bitti F Cervical Dystonia Rewiring the brain through dance TEDx Talk Archived from the original on 25 January 2016 Retrieved 24 January 2016 via YouTube Farias J Dystonia Your movement can heal your brain TEDx Talk Archived from the original on 26 January 2016 Retrieved 24 January 2016 via YouTube Choosing music over meds one man s quest to retrain his brain to overcome dystonia YouTube Archived from the original on 26 January 2016 Retrieved 24 January 2016 Farias J Sarti Martinez MA Elite musicians treated by specific fingers motion program to stimulate proprioceptive sense Congreso Nacional De La Sociedad Anatomica Espanola Alicante Espana p 110 via European Journal of Anatomy Open Your Eyes Part 1 Freedom from Blepharospasm Documentary Out of the Box Productions Archived from the original on 11 April 2016 Retrieved 2 December 2016 via YouTube Jankovic J Tolosa E 2007 Parkinson s Disease amp Movement Disorders 5th ed Philadelphia Lippincott Williams amp Wilkins pp 349 50 ISBN 978 0 7817 7881 7 Brin MF Lew MF Adler CH Comella CL Factor SA Jankovic J et al October 1999 Safety and efficacy of NeuroBloc botulinum toxin type B in type A resistant cervical dystonia Neurology 53 7 1431 1438 doi 10 1212 WNL 53 7 1431 PMID 10534247 Roubergue A Philibert B Gautier A Kuster A Markowicz K Billette de Villemeur T et al 16 February 2014 Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood JIMD Reports 15 7 12 doi 10 1007 8904 2013 292 PMC 4270868 PMID 24532324 Bittar RG Yianni J Wang S Liu X Nandi D Joint C et al January 2005 Deep brain stimulation for generalised dystonia and spasmodic torticollis Journal of Clinical Neuroscience 12 1 12 16 doi 10 1016 j jocn 2004 03 025 PMID 15639404 S2CID 12036156 Foncke EM Schuurman PR Speelman JD January 2006 Suicide after deep brain stimulation of the internal globus pallidus for dystonia Neurology 66 1 142 143 doi 10 1212 01 wnl 0000191328 05752 e2 PMID 16401868 S2CID 9070411 Ramazzini B Diseases of Workers Translated from De Morbis Artificum of 1713 by Wilmer Cave Wright New York Haffner 1964 full citation needed Tarsy D Simon DK August 2006 Dystonia The New England Journal of Medicine 355 8 818 829 doi 10 1056 NEJMra055549 PMID 16928997 Albanese A August 2013 A History of Dystonia The International Parkinson and Movement Disorder Society Archived from the original on 4 March 2016 Retrieved 6 January 2016 External links editA Boston Marathon record is about to be set by a man with a movement disorder in The Washington Post GeneReview NIH UW entry on Dystonia Overview GeneReviews NCBI NIH UW entry on Early Onset Primary Dystonia Film on Dystonia from Public Broadcasting Service A story of one woman s struggle with dystonia at MSNBC com Retrieved from https en wikipedia org w index php title Dystonia amp oldid 1219052808, wikipedia, wiki, book, books, library,

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