Materiały źródłowe

• #1 Dystonia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480

  Dystonia is a movement disorder that causes the muscles to contract. […] The exact cause of dystonia isn’t known. But it might involve changes in communication between nerve cells in several regions of the brain. Some forms of dystonia are passed down in families. […] Dystonia also can be a symptom of another disease or condition, including: Parkinson’s disease, Huntington’s disease, Wilson’s disease, traumatic brain injury, birth injury, stroke, brain tumor or certain conditions that develop in some people with cancer, known as paraneoplastic syndromes, lack of oxygen or carbon monoxide poisoning, infections, such as tuberculosis or encephalitis, reactions to certain medicines or heavy metal poisoning.

• #2 Dystonia: What It Is, Causes, Symptoms, Treatment & Types

  https://my.clevelandclinic.org/health/diseases/6006-dystonia

  Dystonia can happen for many reasons and can take many forms, depending on what causes it and the body parts affected. […] Dystonia happens because of disruptions in how your brain should function. It usually involves your basal ganglia, a group of brain structures that link many different brain areas and coordinate how those areas work together. […] Experts organize the causes of dystonia into three categories: Primary, secondary and dystonia plus conditions. […] Primary dystonia: This is when dystonia is the main condition. Its usually idiopathic, which means it happens for an unknown reason. Experts also suspect genetics are a factor, meaning it runs in families. […] Secondary dystonia: This is when dystonia is a symptom of another condition or issue. […] Secondary dystonia can happen because of, or in connection with, a wide range of reasons: Brain tumors. Other brain conditions (such as epilepsy, Parkinsonism, Parkinsons disease, etc.). Cerebral hypoxia (especially for newborns who experienced a lack of oxygen during their birth). Drugs (prescription or recreational). Genetic conditions (such as Wilsons disease or Huntingtons disease). Infections (such as encephalitis). Metabolic conditions. Stroke. Toxins and poisons (carbon monoxide poisoning, manganese poisoning, etc.). Traumatic brain injuries.

• #3 Dystonia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448144/

  Dystonia is a heterogeneous entity with diverse etiology and clinical presentation. One of the most useful classifications of dystonia is by etiology: primary and secondary dystonia. […] In primary dystonia (familial or sporadic, also called idiopathic torsion dystonia), dystonia is the sole neurologic sign (with exception of the tremor) and other causes of dystonia such as acquired or neurodegenerative processes have been ruled out. […] Primary dystonia is thought to have a greater genetic contribution, even in the absence of a family history of dystonia. The precise cause of primary dystonia is unknown. There is some genetic susceptibility in conjunction with environmental factors. […] Secondary dystonias are caused by the environmental insult and are brought in by some identified causes, such as head injury, drug side effects (e.g., tardive dyskinesia) or neurological disease (e.g., Wilson disease).

• #3 Dystonia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448144/

  Clues suggestive of secondary dystonia emerge from the definition of the disorder that develops as a result of environmental factors that affect the brain, especially the basal ganglia. Spinal cord injury and peripheral injury can serve as a cause of dystonia as well. […] Because many of the neurodegenerations are a result of genetic abnormalities, the term Heredodegenerative dystonia is applied to this category. Dystonia in Neurodegeneration is a prominent feature.

• #4 Dystonia – AANS

  https://www.aans.org/patients/conditions-treatments/dystonia/

  Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain which helps control coordination of movement. […] The exact cause of dystonia is not yet known but may involve alteration in several regions of the brain or the communication between them. Dystonia may be inherited, acquired, or idiopathic (no known cause). Inherited disorders are transmitted genetically. In acquired forms, dystonia is caused by damage or degeneration of the brain (e.g. after a brain injury or stroke) or exposure to particular drugs. In idiopathic dystonia there is no identifiable cause and no structural damage or degeneration to the brain. […] Primary (idiopathic) dystonia is the only sign, and secondary causes have been ruled out. Most primary dystonias are variable, have adult onset, and are focal or segmental in nature. However, there are specific primary dystonias with childhood or adolescent onset that have been linked to genetic mutations.

• #4 Dystonia – AANS

  https://www.aans.org/patients/conditions-treatments/dystonia/

  Secondary (symptomatic) results primarily from secondary causes. These include environmental, such as exposure to carbon monoxide, cyanide, manganese or methanol; underlying conditions and diseases such as brain tumors, cerebral palsy, Parkinson’s disease, stroke, multiple sclerosis, hypoparathyroidism or vascular malformations; brain/spinal cord injuries; inflammatory, infectious or postinfectious brain conditions; and specific medications. […] Heredodegenerative dystonia generally results from neurodegenerative disorders in which other neurological symptoms are present and in which heredity plays a role. These include numerous disorders such as certain X-linked recessive, autosomal dominant, autosomal recessive and/or parkinsonian syndromes.

• #5 What are the causes of dystonia? | Paris Brain Institute

  https://parisbraininstitute.org/disease-files/dystonia/what-are-causes-dystonia

  Dystonia can have several origins: […] A genetic mutation […] A side effect of a drug such as antipsychotics or anti-nausea drugs. Another neurological disease or severe lack of oxygen in the brain. […] Generalized dystonias are generally genetic, hereditary, i.e. familial, or due to a new mutation appearing in the patients DNA (sporadic cases). […] Primary generalized dystonia, also known as idiopathic torsional dystonia, begins in childhood and is due to a mutation in the DYT1 (Chromosome 9) gene encoding the TORSINE A protein. […] The transmission of the DYT1 mutation is called autosomal dominant, meaning that a single allele of the mutated gene is sufficient to declare the disease. […] There are also sporadic cases, i.e. patients with no family history but who carry the mutation.

• #5 What are the causes of dystonia? | Paris Brain Institute

  https://parisbraininstitute.org/disease-files/dystonia/what-are-causes-dystonia

  Dopa-sensitive dystonia is also rare and inherited (dominant autosomal transmission). […] Focal or segmental dystonia may have several non-genetic origins. […] They may result, for example, from a severe lack of oxygen (hypoxia) in the brain at the time of birth or following a stroke, or from trauma or anatomical brain abnormalities. […] Other neurological disorders such as multiple sclerosis or Wilsons disease (copper build-up in cells) can also cause symptoms of involuntary muscular contractions of the dystonic type. […] Finally, some anti-nausea or anti-psychotic treatments may cause dystonia. […] Whether idiopathic, hereditary, or acquired, generalized or not dystonia results from dysfunctional neuron circuits and impaired communication between several brain regions involved in motor control: the basal ganglia, the cortex (the brains peripheral gray substance), and the cerebellum. […] Hyperactivity, i.e., excessive and uncontrolled communication of these structures, appears to be the cause of the observed dystonia symptoms in patients.

• #6 Dystonia: Symptoms, Causes, and Treatment Options

  https://brainfoundation.org.au/disorders/dystonia/

  The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance can play an important role. 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. […] A number of different genes on different chromosomes have now been identified as being linked with different types of dystonia, but researchers dont yet know exactly how a particular gene causes dystonia.

• #7 Dystonia: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/neuro/parkinsons-disease-movement-disorders/dystonia

  Dystonia is believed to arise from an abnormality in the brain that affects neurotransmitters, chemicals that help brain cells communicate with each other. In most cases, the cause of dystonia cannot be identified. Dystonias may be grouped as: […] Idiopathic dystonia means there is no known cause […] Genetic dystonia is a rare form of dystonia caused by a genetic mutation in the DYT1 gene. Dopa-responsive dystonia, also called Segawas disease, is caused by a mutation in the DYT5 gene. Several other mutations in the DYT genes have been identified as causing various types of dystonia. […] Acquired (secondary) dystonia is caused by an external factor, such as infections, trauma, stroke, certain medications, or exposure to certain toxins.

• #8 Cervical Dystonia: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/25228-cervical-dystonia

  Cervical dystonia is a neurological condition (affecting your brain and nerves) that causes involuntary muscle contractions in your neck. […] Healthcare providers dont know the exact cause of all cases of cervical dystonia. Research suggests your basal ganglia, or the part of your brain that regulates muscle movements, isnt working as it should. […] Secondary dystonia may be the result of: complications of psychiatric medication use, traumatic brain injury, Parkinsons disease, genetic change (mutation) of GNAL, THAP1, CIZ1 or ANO3 genes. […] You may be more at risk of developing cervical dystonia if you have biological family members who have the condition, take dopamine antagonists or antipsychotics, or experienced a brain injury.

• #9 Secondary Dystonia-Clinical Clues and Syndromic Associations

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.09016

  The combination of dystonia and deafness is characteristic of the Mohr-Tranebjaerg syndrome due to a new mutations in the DDP1 gene. […] In addition to pure dystonic and pure parkinsonian syndromes, there are overlap syndromes. On one hand dystonic conditions may have superimposed parkinsonism as seen in dopa-responsive dystonia or Wilsons disease. […] Progressive dementia is not a feature of the primary dystonias like the young-onset DYT1-related dystonia or the adult-onset sporadic forms. Progressive dementia is, however, one of the core features of Huntingtons disease and the Huntington disease-look like syndromes (including HDL4/SCA17), as well as neuroacanthocytosis and PKAN. […] Strategic lesions in the basal ganglia, brainstem, cerebellum or cortical areas may result in dystonia and there may be a relationship between the distribution of dystonia and the localization of the lesion. […] The differential diagnosis is wide and includes metabolic, infectious, toxin-induced and degenerative causes.

• #10 Etiology, clinical features, and diagnostic evaluation of dystonia – UpToDate

  https://www.uptodate.com/contents/etiology-clinical-features-and-diagnostic-evaluation-of-dystonia

  Etiology, clinical features, and diagnostic evaluation of dystonia […] Dystonia may be inherited, acquired, or idiopathic. An increasing number of genetic variants have been identified in familial dystonia syndromes. […] The estimated carrier frequency of DYT-TOR1A, the most common genetic form of dystonia, ranges from 18 to 26 per 100,000 persons.

• #11 What causes focal dystonia? – Dystonia Ireland

  https://www.dystonia.ie/forms-of-dystonia/focal-forms/causes-focal-dystonia/

  Adult-onset Focal Dystonia (for example Cervical dystonia) is a genetic disorder with markedly reduced penetrance. […] we consider that all patients with cervical dystonia have a genetic disorder. […] Most people (85%+) who inherit the gene(s) for cervical dystonia do not develop the disorder. This is called reduced penetrance; the disordered gene is present but does not cause dystonia; this is a feature of many genetic disorders. […] In cervical dystonia genetic penetrance is very markedly reduced to about 10-15%. […] The penetrance of the gene (the development of dystonia) depends upon many other factors including sex (women are more susceptible), age and environmental exposures. […] Environmental factors affect penetrance (development of dystonia) and influence the nature of the dystonia which develops (expression of the particular type dystonia).

• #11 What causes focal dystonia? – Dystonia Ireland

  https://www.dystonia.ie/forms-of-dystonia/focal-forms/causes-focal-dystonia/

  Summary: Environmental factors appear to increase the likelihood of developing a focal dystonia (car accidents and cervical dystonia; sun exposure and blepharospasm; hours of writing and focal hand dystonia). […] we do not know yet the gene or genes which cause adult onset dystonia […] it would appear that one requires a combination of an inherited gene plus a particular environmental exposure in order to develop a particular adult onset dystonia. […] It is likely that there is a genetic predisposition to develop dystonia and the type of dystonia one develops depends upon the type of environmental exposure. […] It is more likely that there is a disorder in a particular gene which, depending upon the nature of the environmental exposure, can express itself as cervical dystonia or blepharospasm (or indeed focal hand dystonia).

• #12 Dystonia | What it is, Symptoms, Types and Treatment | CHOC

  https://choc.org/neuroscience/dystonia/

  Dystonia is often caused by injury to a part of the brain called the basal ganglia that controls the speed and fluidity of movement. […] The causes of dystonia can be: Inherited: genetic, inherited from one or both parents […] Acquired: from a neurological injury […] Idiopathic: without clear etiology/cause. […] Underlying causes of certain types of dystonia may be treatable, so discovering the type of dystonia is important. Acquired dystonia results from a brain injury or environmental causes, such as: Lack of oxygen to the brain during pregnancy, delivery or later injury […] Cerebral palsy […] Stroke […] Medication side effects […] Metal or carbon monoxide poisoning […] Brain tumor […] Head trauma […] Autoimmune disorders […] Metabolic diseases. […] Dystonia can also be inherited. Only one parent who carries the gene is needed to pass dystonia to their child. In some instances, children who inherit the gene may not develop dystonia.

• #13 Dystonia

  https://www.nhs.uk/conditions/dystonia/

  Dystonia is caused by a problem with the part of the brain that controls movement. […] Often it’s not known why this happens. […] Sometimes it can be due to: an inherited genetic problem, a side effect of certain medicines, such as antipsychotic medicines and anti-sickness medicines, Parkinson’s disease, a stroke, cerebral palsy, multiple sclerosis.

• #14 Dystonia – Wikipedia

  https://en.wikipedia.org/wiki/Dystonia

  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. […] Malfunction of the sodium-potassium pump may be a factor in some dystonias. […] 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.”

• #14 Dystonia – Wikipedia

  https://en.wikipedia.org/wiki/Dystonia

  Dystonia is classified by: […] There are multiple types of dystonia, and many diseases and conditions may cause dystonia. […] 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, or stress. […] 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 functions 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.

• #15 Dystonia: Causes, Symptoms, and Treatments

  https://www.webmd.com/brain/dystonia-causes-types-symptoms-and-treatments

  Dystonia is a movement disorder in which some of your body’s muscles contract in ways you can’t control. […] Most cases of dystonia don’t have a specific cause. Dystonia seems to be related to a problem in your basal ganglia, the part of your brain that controls your muscle contractions. The problem involves the way the nerve cells communicate. […] Dystonia is divided into three categories: genetic, acquired, and idiopathic. […] If you have genetic dystonia, it means that the problem stems from an abnormal gene you inherited. […] Acquired dystonia is also known as secondary dystonia and is caused by damage to your basal ganglia, usually as a result of: Brain trauma, Stroke, Tumor, Being deprived of oxygen, perhaps during birth, Infection, Poisoning caused by carbon monoxide or heavy metals such as lead, Drug interactions.

• #16 Tardive Dystonia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/287230-overview

  Tardive dystonia is one of several tardive syndromes, a group of movement disorders that occur relatively late in the course of ongoing treatment with dopamine receptor blocking agents. […] The etiology of dystonias typically divide into four broad categories: primary, dystonia-plus, heterodegenerative diseases with dystonia, and secondary dystonia. Primary dystonia is used for familial and nonfamilial genetic syndromes where dystonia is the major feature. A dystonia-plus syndrome is also a genetic syndrome with dystonia as the primary symptom but with other neurologic symptoms prominent (such as the dystonia-parkinsonism or dystonia-myoclonus syndromes). This is in contrast to heterodegenerative diseases with dystonia when dystonia is present but not the major symptom (such as Wilson’s disease, MPAN, or PKAN). Secondary dystonia is a dystonia brought on by an inciting event, such as a stroke, trauma, or drugs.

• #16 Tardive Dystonia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/287230-overview

  Young age, male sex, intellectual disability, and history of electroconvulsive therapy have been identified as specific risk factors. Exposure to dopamine receptor blocking agents (DRBAs) is essential for the diagnosis of this disorder. Antipsychotic medications are the most significant etiologic factor. Other medications associated with tardive dystonia include antiemetics (eg, prochlorperazine, promethazine, metoclopramide) and certain antidepressants (eg, amoxapine). […] The most common cause of tardive dystonia is exposure to antipsychotic medications. Tardive dystonia develops in a shorter period and with significantly less total antipsychotic exposure than severe tardive dyskinesia. Also, patients with tardive dystonia seem to receive fewer doses of antipsychotic agents than patients who develop tardive dyskinesia.

• #16 Tardive Dystonia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/287230-overview

  The duration of exposure to antipsychotic medications required to cause tardive dystonia ranges from months to years. Exposure to antipsychotics need not necessarily be long, and a minimum safe period is not apparent. This minimum duration of antipsychotic exposure seems to be shorter for women. A longer duration of exposure to antipsychotic medication does not correlate with the severity of dystonia; however, patients with generalized dystonia have shorter time of antipsychotic exposure than patients with focal dystonia.

• #17 Dystonia | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/dystonia/

  Dystonia is thought to be caused by a problem with the part of the brain that controls movement. […] Primary and secondary dystonia may have different underlying causes. […] Primary dystonia often begins in childhood. This type of dystonia is more likely to have a recognised genetic cause. […] You might experience dystonia as a symptom of another condition. […] Secondary dystonia might be caused by: Parkinsons disease, cerebral palsy, certain medications (like some antipsychotics and some anti sickness medications), injury to the brain, stroke.

• #18 Dystonia | The BMJ

  https://www.bmj.com/content/377/bmj-2020-062659

  Other subtypes of dystonia, particularly focal dystonias, have stronger environmental influences (such as intensive stereotyped practice in musicians dystonia). […] Acquired dystonia occurs secondary to a precipitating event. Approximately half of children with dystonia have an acquired cause for their condition; causes include hypoxic brain injury at birth, preterm delivery, and kernicterus. […] In drug induced dystonia, acute reactions can be seen hours after the administration of antidopaminergic medications (eg, metoclopramide, prochlorperazine). […] Tardive dystonia can occur many months or years after chronic exposure to a range of medications such as antipsychotics (eg, haloperidol). […] Consider functional (psychogenic) dystonia if the patient shows an unusual distribution of dystonia, a fixed dystonia, and/or a reduction of symptoms with distraction.

• #18 Dystonia | The BMJ

  https://www.bmj.com/content/377/bmj-2020-062659

  Dystonia is a neurological condition characterised by abnormal postures and movements resulting from abnormal neural control of muscles. […] Dystonia is an abnormality of movement and posture caused by the abnormal neural control of muscle contractions. […] Dystonia was originally thought to be caused by disrupted basal ganglia function, as lesions in the basal ganglia (particularly the putamen) frequently resulted in dystonia. However, later studies showed that it is better conceptualised as a network disorder that also includes the cerebellum, thalamus, and cortex. […] Genetic mutations can cause generalised isolated dystonia (eg, TOR1A), focal isolated dystonia (eg, GNAL), and combined dystonia. […] Some evidence suggests that monogenic mutations converge on common molecular pathways.

• #19 Types of Dystonia | Dystonia Medical Research Foundation

  https://dystonia-foundation.org/what-is-dystonia/types-dystonia/

  Dystonia can occur as a symptom of multiple disorders. […] Specific drugs are capable of causing dystonia. […] Dystonia that is secondary to a combination of neurological and psychiatric/psychological causes. […] Dystonia symptoms may follow trauma to the head, and/or trauma to a specific body area. […] A number of uncommon toxins are capable of causing brain damage. […] Rapid-onset dystonia Parkinsonism (RDP) is a hereditary form of dystonia. […] An inherited dystonia disorder that includes symptoms of parkinsonism.

• #20 Dystonia | Parkinson’s Foundation

  https://www.parkinson.org/understanding-parkinsons/movement-symptoms/dystonia

  Curled, clenched toes or a painful cramped foot are telltale signs of dystonia. Dystonia is a sustained or repetitive muscle twisting, spasm or cramp that can occur at different times of day and in different stages of Parkinsons disease (PD). Dystonia is a common early symptom of young-onset Parkinsons, but it can appear during any stage of Parkinsons. […] Although dystonia can be a Parkinsons symptom, people can experience dystonia without PD. Dystonia movements are different from dyskinesia (flowing, writhing movements that tend not to be painful). […] With your physicians guidance, adjusting the dose or frequency of medication may help relieve dystonia. For example, if you have morning dystonia, which occurs before your first dose of levodopa kicks in, your doctor may add a bedtime dose of controlled-release carbidopa-levodopa or a long-acting dopamine agonist.

• #21 Dystonia and Parkinson’s disease: Research and more

  https://www.medicalnewstoday.com/articles/dystonia-and-parkinsons-disease

  Dystonia can be a symptom of Parkinsons disease or occur due to other causes. […] The cause of dystonia in Parkinsons disease is often fluctuations in dopamine levels. […] Dystonia in Parkinsons disease often occurs as a side effect of certain medications that doctors prescribe to treat the condition, like levodopa. […] Aside from Parkinsons disease, dystonia has several causes, including medications and brain injury affecting the basal ganglia. […] The basal ganglia is a part of the brain that helps control movement and other important processes, such as decision making and reward. Damage to this area and diseases that may affect it can include: head injury, stroke, tumor, oxygen deprivation, infection, for example, encephalitis, carbon monoxide or heavy metal poisoning, multiple sclerosis, cerebral palsy.

• #22 Muscle cramps and dystonia | Parkinson’s UK

  https://www.parkinsons.org.uk/information-and-support/muscle-cramps-and-dystonia

  Dystonia is a condition in its own right. You may experience it separately from Parkinsons, or your dystonia may be a symptom of your Parkinsons. Its more common in people who are diagnosed with Parkinsons at a younger age. […] Dystonia appears to be caused by problems with the basal ganglia. This is the area of the brain that controls movement. […] One type of dystonia is a genetic or hereditary condition called primary dystonia. This means that it runs in families. […] However, people with Parkinsons usually get dystonia as a symptom of their condition. This is called secondary dystonia. It can also be a side effect of levodopa. […] In Parkinsons, dystonia is often linked to levodopa. […] Dystonia mostly happens as levodopa is wearing off. […] Sometimes your levodopa creates too much dopamine stimulation and this can cause on dystonia.

• #23 Dystonias: Practice Essentials, Classification, Common Types of Dystonias

  https://emedicine.medscape.com/article/1150643-clinical

  Drug-induced supersensitivity of striatal dopamine receptors and abnormality of gamma-aminobutyric acid (GABA)ergic neurons are proposed mechanisms for some drug-induced dystonias. […] Abnormalities of serotonin, dopamine, and norepinephrine in specific cerebral structures also have been associated with dystonia musculorum deformans. In a literature review of human and animal studies, Smit et al pointed out that reduced levels of the serotonin metabolite 5-hydroxyindolacetic acid have been found in association with dystonia. The investigators also identified 89 cases, reported in 49 papers, that demonstrated a relationship between dystonia and drugs that impact the serotonergic system.

• #23 Dystonias: Practice Essentials, Classification, Common Types of Dystonias

  https://emedicine.medscape.com/article/1150643-clinical

  Impaired basal ganglia outflow is thought to play a role in the genesis of some dystonias. Lesions in the putamen have been linked to hemidystonia. Bilateral putaminal involvement may be responsible for generalized dystonia. […] Torticollis and hand dystonia are thought to result from involvement of the head of the caudate nucleus and thalamus, respectively. Disease of the thalamus and subthalamus, as well as derangement of hypothalamic function, also has been suspected. […] Because the basal ganglia play a role in maintaining normal head posture, the basal ganglia and the vestibulo-ocular reflex pathway have been implicated in the development of cervical dystonia. Disturbances of neurotransmitter systems also have been described in dystonias. […] A study by McClelland et al indicated that there are significant differences in the rate and pattern of pallidal firing according to the etiology and phenotype of dystonia. For example, the median firing frequency of the internal globus pallidus was higher in patients with primary dystonia than in those with secondary static dystonia and was higher in patients with progressive dystonia secondary to neuronal brain iron accumulation than in the other two groups.

• #24 Focal dystonia – Wikipedia

  https://en.wikipedia.org/wiki/Focal_dystonia

  It is hypothesized that a deficit in inhibition caused by a genetically mediated loss of inhibitory interneurons may be the underlying cause of the deficits observed in dystonia. […] Focal dystonia most typically affects people who rely on fine motor skillsmusicians, writers, surgeons, etc. It is thought that the excessive motor training those skills require may contribute to the development of dystonia as their cortical maps become enlarged and begin to overlap.

• #25 Dystonia Causes, Symptoms, and Treatment | Pacific Movement Disorders

  https://www.pacificneuroscienceinstitute.org/movement-disorders/conditions/dystonia/

  Dystonia refers to abnormal muscle postures or positioning, and can affect the entire body (generalized dystonia) or one body part (focal dystonia). […] Sometimes this is brought on by a specific action, such as writers cramp or musicians dystonia (this is called task-specific dystonia). […] Generalized dystonia causes twisting, turning and abnormal posturing in the whole body, often affecting children and young adults, mostly related to a genetic cause (most commonly DYT1 and DYT6 mutations). […] Some children (and adults) with generalized dystonia may have a genetic cause of a biochemical lack of dopamine, called Segawa syndrome (with mutations in DYT5 gene). […] This condition is also known as Dopa-responsive dystonia (DRD). […] Drug-induced dystonia, also known as tardive dystonia or tardive dyskinesia, occurs after months or years of neuroleptic use.

• #26 Table: Some Causes of Dystonia-Merck Manual Consumer Version

  https://www.merckmanuals.com/home/multimedia/table/some-causes-of-dystonia

  Some Causes of Dystonia […] Disorders […] Cerebral palsy […] Genetic disorders, such as generalized dystonia and dopa-responsive dystonia […] A severe lack of oxygen to the brain (which may occur at birth or later in life) […] Toxicity due to accumulation of certain metals (such as copper in Wilson disease) […] Medications used to relieve nausea (antiemetics), such as metoclopramide and prochlorperazine […] Medications used to treat psychosis (antipsychotic medications), such as chlorpromazine, fluphenazine, haloperidol, and thiothixene.

• #27 Understanding Functional Dystonia | Saint Luke’s Health System

  https://www.saintlukeskc.org/health-library/understanding-functional-dystonia

  What causes functional dystonia? […] Researchers dont know yet what causes it. Tests dont show clear physical causes, such as nerve damage. The problem may be because of changes in how the brain processes signals after different kinds of stress. Signals sent to muscles may be disordered. Functional dystonia may occur within a few months after a stressful illness or injury. People who have had a history of severe stress from sexual abuse, bullying, anxiety, or depression may be more at risk for it. But some people with functional dystonia don’t have a history of these kinds of stress.

• #28 Pathophysiology of Dystonia – Dystonia and Speech Motor Control Laboratory

  https://simonyanlab.meei.harvard.edu/research/pathophysiology-of-dystonia/

  Dystonia is a movement disorder of yet unknown causes and pathophysiology. […] Despite well-characterized clinical features of LD, its causes and pathophysiology remain unclear. […] The absence of objective biomarkers of LD leads to diagnostic inaccuracies, while the lack of understanding of its neural and molecular targets hinders the development of novel therapeutic opportunities for these patients. […] Our goal is to provide detailed knowledge about the neurotransmission via GABAA, D1- and D2-family receptors in patients with different forms of focal dystonia. This information will help determine the contribution of GABAergic and dopaminergic neurotransmission to the pathophysiology of dystonia, as well as identify potential new pharmacological targets for novel treatment options.

• #29 What causes dystonia? – VCU School of Medicine

  https://neurology.vcu.edu/news/what-causes-dystonia/

  Researchers at the VCU Parkinson’s and Movement Disorders Center are seeking to shed light on what causes dystonia, a chronic and frequently disabling and painful neurological disorder that causes muscles to spasm forcing the body into abnormal movements and postures. […] Dystonia is considered the third most common movement disorder, Berman notes. The disorder can be a spontaneous isolated condition, or it can be seen in patients taking anti-psychotic medications as well as those with Parkinson’s disease or those who have suffered a stroke or traumatic brain injury. In many cases, the root cause of a patient’s dystonia remains a mystery. […] Dozens of patients from around the U.S. are taking part in a half-dozen dystonia research projects that Berman leads at the PMDC. Those studies seek a better understanding of its cause, improved ways to diagnose dystonia, and better ways to treat it. […] A third project draws samples of a patient’s blood in order to create a “biobank” for protein biomarker and DNA testing in order to better understand what causes the disorder.

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