Materiały źródłowe

• #1 Diagnosis & Treatment of Dystonia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248237/

  The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to abnormal postures and/or repetitive movements. […] A careful assessment of the clinical manifestations is helpful for identifying syndromic patterns that focus diagnostic testing on potential causes. […] Because there are so many different clinical manifestations and causes, there are no simple algorithms for diagnosis that address all dystonias. […] A more methodical strategy for diagnosis is shown in Figure 1. Once a diagnosis of dystonia is suspected based on clinical phenomenology, the first step is to rule out disorders that may mimic dystonia (pseudodystonia), such as those due to orthopedic, neuromuscular or psychogenic processes. […] The next step is to delineate the clinical syndrome according to the four dimensions used for clinical classification (Table 1).

• #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. […] Diagnosing dystonia is often tricky because its symptoms can happen with so many other conditions. […] A healthcare provider, often a neurologist, can diagnose dystonia based on your symptoms, a neurological exam and various medical tests. […] A wide range of lab, diagnostic and imaging tests are possible with dystonia. […] The possible medications or treatments for dystonia depend on why its happening and the specific symptoms you have. […] Theres no way to cure dystonia, but it might be treatable. […] Your healthcare provider is the best person to tell you the treatment options they recommend in your specific situation. […] Dystonia happens unpredictably, so you cant prevent it.

• #3 Dystonia Diagnosis: Clinical Neurophysiology and Genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9320296/

  Dystonia diagnosis is based on clinical examination performed by a neurologist with expertise in movement disorders. […] Clues that indicate the diagnosis of a movement disorder such as dystonia are dystonic movements, dystonic postures, and three additional physical signs (mirror dystonia, overflow dystonia, and geste antagonists/sensory tricks). […] Despite advances in research, there is no diagnostic test with a high level of accuracy for the dystonia diagnosis. […] Clinical neurophysiology and genetics might support the clinician in the diagnostic process. […] The neurophysiologic measure with the greatest evidence in identifying patients affected by dystonia is the somatosensory temporal discrimination threshold (STDT). […] Other parameters need further confirmations and more solid evidence to be considered as support for the dystonia diagnosis.

• #4 Dystonia – AANS

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

  Dystonia is a very complex, highly variable neurological movement disorder characterized by involuntary muscle contractions. […] Dystonia is sometimes misdiagnosed as stress, a stiff neck or a psychological disorder. The intermittent character of the disorder may lead medical practitioners to conclude that a psychological disorder is either the primary cause or a contributing factor. Diagnosis is difficult because dystonia symptoms are similar to those of many other conditions and are so variable in nature. […] There is no definitive test for dystonia but doctors can make the diagnosis by learning about the symptoms and performing a neurological exam. Sometimes doctors use other tests such as a brain MRI to make sure something else is not causing the symptoms. For patients with early-onset dystonia or those with an affected relative, doctors may suggest genetic testing.

• #5 Clinical Diagnostic Evaluation of Dystonia

  https://practicalneurology.com/diseases-diagnoses/movement-disorders/clinical-diagnostic-evaluation-of-dystonia/32167/

  Acute dystonic reactions typically occur suddenly, within hours to days after starting or increasing the dose of antidopaminergic medications, including antipsychotics or antiemetics. […] Physicians also need to assess symptom variability (ie, whether the symptoms vary over the course of a day or only occur with specific activities). […] The presence of a sensory trick can support the diagnosis of dystonia. […] Patient history should reveal any exposures that may have caused or triggered a dystonic reaction, including the use of dopamine-blocking antipsychotics or antiemetics, toxins, physical trauma, or stress. […] Dystonic movements need to be characterized. […] Dystonia is characterized by sustained or stereotyped, often jerky, involuntary movements which may have dystonic type pulling movements as part of the phenomenology.

• #6 Clinical Diagnostic Evaluation of Dystonia

  https://practicalneurology.com/diseases-diagnoses/movement-disorders/clinical-diagnostic-evaluation-of-dystonia/32167/

  A thorough patient history and examination are needed to establish the clinical diagnosis of dystonia; subsequent laboratory, imaging, and genetic testing can assist in identification of etiology and a course of treatment. […] Recognizing dystonia can be a challenge, but its identification is an important first step in discerning an etiology and suggesting a course of treatment. […] Careful attention to patient history will highlight features that are consistent with dystonia or point to another diagnosis. […] The clinical characteristics include age at onset, body regions affected, temporal pattern (overall disease course and situational variability), and associated features. […] Age at onset is an important initial consideration that may have relevance in etiology. […] Generalized dystonia is more common in younger individuals with a genetic etiology compared with adults, who have a higher prevalence of idiopathic focal and acquired dystonias.

• #7 Clinical Diagnostic Evaluation of Dystonia

  https://practicalneurology.com/diseases-diagnoses/movement-disorders/clinical-diagnostic-evaluation-of-dystonia/32167/

  The body can be separated into craniofacial, oromandibular, cervical, truncal, limb, and laryngeal regions. […] In focal dystonia, 1 region is affected (eg, a foot turning in, twisting of the neck). […] Segmental dystonia affects 2 contiguous body regions, such as craniofacial and oromandibular regions. […] Multifocal dystonia involves 1 noncontiguous region. […] Generalized dystonia affects the trunk and 2 other regions. […] Hemidystonia affects 1 region, but only on 1 side of the body and is a red flag for potential lesional causes of dystonia, such as stroke, tumor, or demyelinating lesion. […] The temporal pattern of symptoms should be considered, including whether the movements started acutely or insidiously, and whether they have been static or progressive over time. […] Most idiopathic and genetic dystonias have an insidious onset and slowly progressive course.

• #8 Clinical Diagnostic Evaluation of Dystonia

  https://practicalneurology.com/articles/2024-sept-oct/clinical-diagnostic-evaluation-of-dystonia

  A thorough patient history and examination are needed to establish the clinical diagnosis of dystonia; subsequent laboratory, imaging, and genetic testing can assist in identification of etiology and a course of treatment. […] Recognizing dystonia can be a challenge, but its identification is an important first step in discerning an etiology and suggesting a course of treatment. […] Careful attention to patient history will highlight features that are consistent with dystonia or point to another diagnosis. […] The clinical characteristics include age at onset, body regions affected, temporal pattern (overall disease course and situational variability), and associated features. […] Age at onset is an important initial consideration that may have relevance in etiology. […] The body can be separated into craniofacial, oromandibular, cervical, truncal, limb, and laryngeal regions.

• #9 Dystonia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dystonia/diagnosis-treatment/drc-20350484

  To diagnose dystonia, your healthcare team starts with a medical history and physical exam. […] To look for conditions that may be causing your symptoms, you might need: […] Blood or urine tests. These tests can reveal signs of toxins or of other conditions. […] MRI or CT scan. These imaging tests look for changes in your brain, such as tumors or evidence of a stroke. […] Electromyography (EMG). This test measures the electrical activity within muscles. […] Genetic testing. Some forms of dystonia are associated with certain genes. Knowing if you have these genes can help guide treatment.

• #10

  https://www.aurorahealthcare.org/services/neuroscience/brain-skull-base-care/dystonia

  Dystonia is an unusual movement disorder that results in involuntary muscle movements (dyskinesia). […] Dystonia is often described based on the areas where symptoms occur. […] Researchers arent sure what causes dystonia. […] There is no single test to diagnose dystonia. […] The steps in dystonia diagnosis may include: Health history, including family health history, Physical exam to test nervous system functioning, Blood, urine and cerebrospinal fluid tests, Electromyography (EMG), electroencephalography (EEG) or magnetic resonance imaging (MRI), Genetic testing, Other tests and screenings to rule out other conditions. […] From there, youll talk with your doctor about your dystonia diagnosis and discuss ways to improve your condition.

• #11 Diagnosis of Dystonia – Dystonia Ireland

  https://www.dystonia.ie/about-dystonia/diagnosis-of-dystonia/

  There is no single test to confirm the diagnosis of dystonia. To avoid misdiagnosis it is important that the G.P. refers the patient with dystonia to a neurologist specialising in movement disorders to observe symptoms of dystonia and obtain a detailed patient and family history and do a thorough clinical evaluation. In order to correctly diagnose dystonia, doctors must be able to recognise the physical signs and be familiar with the symptoms. […] The dystonia diagnostic process may include: Patient history, Family history, Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid, Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG), Genetic testing for specific forms of dystonia, Other tests and screenings intended to rule out other conditions or disorders.

• #12 Dystonia | UCI Health | Orange County, CA

  https://www.ucihealth.org/medical-services/programs/~/link.aspx?_id=9778C68F00874FD6B0AA3B9A0DD8CE83&_z=z

  Dystonia can be a challenging condition to diagnose and treat. […] During the diagnostic process, the fellowship training of our doctors helps them distinguish between similar looking movement disorders. […] Some of the tests our physicians use include: Neurophysiological testing in our movement neurophysiology lab, EEG (electroencephalogram), EMG (electromyography), Neurological exam, Physical exam and medical history, Imaging tests (MRI or CT scan), Genetic testing, Blood test, Urine test. […] Work with us to make sure your diagnosis is accurate. We can get you the advanced therapies that will positively impact your quality of life.

• #13 Diagnosis & Treatment of Dystonia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248237/

  A careful delineation of the syndromic pattern, along with neuroimaging characteristics, is important because it aids in narrowing down the long list of potential etiologies for more targeted diagnostic testing. […] For patients with isolated dystonia, the laboratory workup depends on the age at onset, the body distribution, and whether there are affected family members. […] In adults with hemidystonia or generalized dystonia, neuroimaging is useful because the likelihood of disclosing a structural cause is higher. […] The diagnostic approach in younger individuals with isolated dystonia is quite different, because there is a much higher likelihood of disclosing a cause. […] Neuroimaging is important for all early-onset cases, regardless of body distribution. […] Genetic testing for early-onset isolated dystonias should target the TOR1A gene for DYT1 dystonia and the THAP1 gene for DYT6 dystonia.

• #14 Diagnosis & Treatment of Dystonia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4248237/

  For all patients where dystonia is combined with other neurological or systemic features, some additional workup is warranted, regardless of the age at onset or body distribution. […] Neuroimaging is useful in virtually all combined dystonias, because it can provide important diagnostic clues. […] When a specific etiology cannot be determined, it is important to follow patients and revise the diagnosis as additional clinical features are recognized.

• #15 Dystonia Diagnosis: Clinical Neurophysiology and Genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9320296/

  The role of laboratory analysis, neuroimaging studies, neurophysiology, and genetic tests is to support the etiology definition of the disease, according to the Axis II of Dystonia classification. […] Clinical neurophysiology techniques such as EMG mapping allow clinicians to support the diagnosis of dystonia and to explore the activity of individual muscles which is not always easy to achieve with a clinical inspection alone. […] Neurophysiology assessment is not formally included in the diagnostic process; however, neurophysiological tests can support the diagnosis. […] The most relevant neurophysiological feature shared by all dystonia subtypes is the reduced inhibition of central motor circuits. […] The study of oscillatory activities in neurological disorders revealed new pathological biomarkers in recent years.

• #16 Dystonia Diagnosis: Clinical Neurophysiology and Genetics

  https://www.mdpi.com/2077-0383/11/14/4184

  The role of laboratory analysis, neuroimaging studies, neurophysiology, and genetic tests is to support the etiology definition of the disease, according to the Axis II of Dystonia classification. […] Clinical neurophysiology techniques such as EMG mapping allow clinicians to support the diagnosis of dystonia and to explore the activity of individual muscles which is not always easy to achieve with a clinical inspection alone. […] Neurophysiology assessment is not formally included in the diagnostic process; however, neurophysiological tests can support the diagnosis. […] The most relevant neurophysiological feature shared by all dystonia subtypes is the reduced inhibition of central motor circuits. […] The study of oscillatory activities in neurological disorders revealed new pathological biomarkers in recent years. Several authors suggested that these abnormalities could be used as biomarkers to deliver electrical DBS only in response to pathological neuronal oscillation.

• #17 Dystonia Diagnosis: Clinical Neurophysiology and Genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9320296/

  The clinical diagnosis should be based on the observations of two core characteristics and of adjunctive features. […] According to the EFNS dystonia guidelines, a neurophysiological test may help diagnosis despite low evidence (class IV), hence further and proper studies are needed. […] However, the role of neurophysiology is not marginal, being an important resource to enlighten the pathophysiology of dystonia. […] Once dystonia has been clinically diagnosed, the definition of the etiology is needed. […] The etiological diagnosis of dystonia cannot ignore the role of genetics testing. […] Several genes have been described as causes of isolated, combined, or complex forms of dystonia. […] The choice to request WES to reach a diagnosis should be carefully considered when panels for dystonia fail to detect causative mutations.

• #18 Dystonia: Diagnosis & Treatment | NewYork-Presbyterian

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

  How is Dystonia Diagnosed? Diagnosis While there is no definitive test to diagnose dystonia, NewYork-Presbyterian physicians will perform a thorough physical examination and neurologic assessment to determine what symptoms are present and when and how they occur. Doctors may also order: […] Magnetic resonance imaging (MRI) to rule out other disorders that may be causing symptoms. […] Genetic testing to look for dystonia mutations in individuals who experience dystonia early in life or who have a relative with dystonia.

• #19 Athena Diagnostics

  https://www.athenadiagnostics.com/view-full-catalog/complete-dopa-responsive-dystonia-dyt5-evaluation1

  Test code: 629 Type of disorder: Movement Disorders Disease(s) tested for: Dystonia 5 Genes Included: GCH1, TH, Tests included: GCH1 Deletion Analysis (DYT5A)GCH1 DNA Sequencing Test (DYT5A)TH DNA Sequencing Test (DYT5B) Informed Consent Required: This test requires physician attestation that patient consent has been received […] Clinical Significance: Detects mutations in the GCH1 and TH genes. Indications include: Childhood onset of dystonia with positive response to low dose levodopa. Childhood onset of lower limb dystonia, typically in the foot with possible hyperreflexia and striatal toe. Dramatic response to low doses of levodopa.

• #20 Dystonia (DYT1) DNA Test | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/14678/dystonia-dyt1-dna-test?p=r&cc=MASTER

  Dystonia (DYT1) DNA Test – Detects GAG deletion in the DYT1 gene in patient with Dystonia-1, Torsion. Patients exhibit generalized or focal early-onset idiopathic torsion dystonia. […] This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

• #21

  https://journals.lww.com/co-neurology/fulltext/2023/08000/new_developments_in_diagnostics_and_treatment_of.12.aspx

  The algorithm consists of five steps, with the first four steps aimed at accurate phenotyping of dystonia and recognizing acquired or neurodegenerative causes. The fifth step is aimed at determining whether genetic testing is indicated. […] The authors conclude that genetic testing is currently not necessary if red flags for a genetic cause are lacking, and the phenotype of the patient truly matches that of adult-onset idiopathic focal dystonia. […] The development and use of universal clinical guidelines is important as it improves consistency and accuracy of diagnosis. […] Continuing efforts are being made to further develop recommendations and algorithms for dystonia subtypes to refine diagnosis and to assist in navigating the array of available diagnostic tools.

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

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

  Learning your child has a neurological movement disorder can be overwhelming. Our neuroscience team is expertly trained in children’s brain disorders. We will be with your family from diagnosis throughout your child’s growth to ensure the best possible outcome. […] Diagnosing dystonia in children can be difficult, as there is no specific diagnostic test. Dystonia can be diagnosed by a neurologist through various tests. The neurologist will need to examine the symptoms and the nature of the abnormal movements or muscle contractions. Using patient and family history, they can work to rule out other conditions. Some diagnostic tools to identify dystonia include: Physical exam of the nervous system, Video of abnormal movements, Blood and urine tests, Electromyography (EMG) to measure electrical activity in muscles, Genetic testing for inherited dystonia genes, Magnetic Resonance Imaging (MRI) to look for brain injury, Review of patient and family medical history. […] Dystonia is an uncommon condition, and its symptoms can be similar to those of other disorders, making it easy to misdiagnose. Common misdiagnoses may include tremors, tics, orthopaedic conditions, muscle spasms or seizures.

• #23 Dystonia Diagnosis and Treatment | MD West ONE Specialists

  https://mdwestone.com/dystonia/

  Dystonia is a very complex neurological movement disorder characterized by involuntary muscle contractions. […] Our Neurosurgery and Spine Specialists at MD West ONE can help diagnose and treat dystonia. […] Dystonia is sometimes misdiagnosed as stress, a stiff neck, or a psychological disorder. […] Dystonia is classified by three main factors: Age, Body Part, Cause. […] There is a three-tiered approach to treating dystonia: botulinum toxin (botox) injections, several types of medication, and surgery. These may be used alone or in combination. Medications and botox can both help block the communication between the nerve and the muscle and may lessen abnormal movements and postures.

• #24 Clinical Diagnostic Evaluation of Dystonia

  https://practicalneurology.com/diseases-diagnoses/movement-disorders/clinical-diagnostic-evaluation-of-dystonia/32167/

  Dystonia may be differentiated from chorea in that chorea is irregular and flowing, whereas dystonic movements are patterned and stereotyped. […] If the predominant movement is diagnosed as dystonia, the next step is determining an etiology. […] The laboratory evaluation of dystonia should be directed based on suspicion built on the history and examination findings. […] Genetic testing may be warranted even without a suggestive family history, particularly in children and young adults, due to genetic pleiotropy, variable penetrance, and overlapping phenotypes of the genetic disorders. […] Most cases of idiopathic dystonia have normal imaging study results; however, neuroimaging is useful in cases where lesional or metabolic disorders are suspected. […] The evaluation of dystonia is challenging due to the pleomorphic presentations. […] A thorough patient history and examination are needed to establish the clinical diagnosis, and subsequent imaging and genetic testing can be ordered to identify etiology and a course of treatment.

• #25 Fast and Accurate Diagnosis of Dystonia with Deep Learning – Harvard Brain Science Initiative

  https://brain.harvard.edu/hbi_news/fast-and-accurate-diagnosis-of-dystonia-with-deep-learning/

  Fast and Accurate Diagnosis of Dystonia with Deep Learning […] This exemplary journey represents the struggle of thousands of patients with different forms of dystonia to receive an accurate diagnosis. Dystonia is a rare neurological movement disorder characterized by involuntary muscle contractions, leading to abnormal movements and postures. Its pathophysiology is unknown and there is no biomarker for dystonia, which lead to significant delays in the diagnosis, extending up to 10 years after the first symptoms. Clinicians often disagree with each other about the diagnosis of a dystonia patient, particularly if they are not specialized in movement disorders. […] DystoniaNet receives a raw MRI as input, and uses its data-driven biomarker to make a probabilistic diagnosis of dystonia for each patient. Leveraging on the advances of machine learning, we developed DystoniaNet, a 3D convolutional neural network capable of diagnosing dystonia from raw structural MRI data. When testing DystoniaNet on an independent test set of 172 patients with three different forms of dystonia, it achieved an accuracy of 98.8% across all forms, referring only 3.5% of patients to further examination.

• #26 New Artificial Intelligence Platform Uses Deep Learning to Diagnose Dystonia with High Accuracy in Less Than One Second

  https://masseyeandear.org/news/press-releases/2020/09/new-artificial-intelligence-platform-uses-deep-learning-to-diagnose-dystonia

  New study showed DystoniaNet AI platform detected cases of dystonia from an MRI with 98.8 percent accuracy. There is currently no diagnostic test for dystonia. […] Researchers at Mass Eye and Ear have developed a unique diagnostic tool that can detect dystonia from MRI scans, the first technology of its kind to provide an objective diagnosis of the disorder. […] There is currently no biomarker of dystonia and no gold standard test for its diagnosis. […] There is a critical need to develop, validate and incorporate objective testing tools for the diagnosis of this neurological condition, and our results show that DystoniaNet may fill this gap. […] Traditionally, a dystonia diagnosis is made based on clinical observations, said Dr. Simonyan. Previous studies have found that the agreement on dystonia diagnosis between clinicians based on purely clinical assessments is as low as 34 percent and have reported that about 50 percent of the cases go misdiagnosed or underdiagnosed at a first patient visit.

• #27 Fast and Accurate Diagnosis of Dystonia with Deep Learning – Harvard Brain Science Initiative

  https://brain.harvard.edu/hbi_news/fast-and-accurate-diagnosis-of-dystonia-with-deep-learning/

  We also made DystoniaNet interpretable, by analyzing its internal model to uncover a novel data-driven biomarker of dystonia composed of corpus callosum, anterior and posterior thalamic radiations, inferior fronto-occipital fasciculus, and inferior temporal and superior orbital gyri. In addition of being extremely accurate, DystoniaNet is also very fast: it takes only a fraction of a second (0.36 s, on average) to make a diagnosis. […] We hope that DystoniaNet would transform the clinical management of dystonia by reducing the rate of mis- and underdiagnosis, and by speeding up the diagnostic process.

• #28 New Artificial Intelligence Platform Uses Deep Learning to Diagnose Dystonia with High Accuracy in Less Than One Second

  https://masseyeandear.org/news/press-releases/2020/09/new-artificial-intelligence-platform-uses-deep-learning-to-diagnose-dystonia

  Our study suggests that the implementation of the DystoniaNet platform for dystonia diagnosis would be transformative for the clinical management of this disorder, said the first study author Davide Valeriani, PhD. […] Importantly, our platform was designed to be efficient and interpretable for clinicians, by providing the patients diagnosis, the confidence of the AI in that diagnosis, and information about which brain structures are abnormal. […] If DystoniaNet finds a high probability of dystonia in the MRI, a physician can use this information to help confidently confirm the diagnosis, pursue future actions, and suggest a course of treatment without a delay.

• #29

  https://journals.lww.com/co-neurology/fulltext/2023/08000/new_developments_in_diagnostics_and_treatment_of.12.aspx

  Due to its heterogenous presentation, diagnosing adult-onset focal dystonia accurately remains a challenge. The absence of widely accepted diagnostic criteria for the different subtypes complicates this matter. […] In addition to the visible motor symptoms, an increasing body of evidence shows that nonmotor symptoms (NMS) are commonly associated with adult-onset focal dystonia. […] The presence of NMS is reported across the entire spectrum of adult-onset focal dystonia. […] A clinical diagnosis of adult-onset dystonia is generally based on phenomenology. Most cases are of idiopathic cause, requiring no further testing to establish a diagnosis. […] However, for a small percentage of patients, the dystonia is caused by a treatable underlying acquired or a genetic disease, thus prompt and accurate diagnosis is crucial in these cases.

• #30 Dystonia | Peter O’Donnell Jr. Brain Institute | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/dystonia/

  Movement disorder specialists at UT Southwestern Medical Center offer each patient with dystonia a personalized treatment plan, based on his or her symptoms, that minimizes symptoms and maximizes quality of life. […] UT Southwestern has more than 20 years of established expertise in evaluating and treating dystonia with a variety of medical and surgical treatments, as well as offering support services. […] Because dystonia has many different symptoms, its often misdiagnosed. We base a dystonia diagnosis on a clinical evaluation, medical history, blood or urine test, and/or brain MRI. Learn how we evaluate patients for dystonia. […] There is no standard treatment for dystonia. Instead, each patients treatment options are based on his or her symptoms.

• #31

  https://journals.lww.com/co-neurology/fulltext/2023/08000/new_developments_in_diagnostics_and_treatment_of.12.aspx

  The aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia. […] Accurate phenotyping of focal dystonia is essential in the process of finding an underlying cause, including acquired, genetic, and idiopathic causes. […] The diagnostic process is complicated by the steadily increasing numbers of newly discovered genes associated with dystonia. […] Recent efforts have been aimed at further developing recommendations and algorithms to aid in diagnosis and in navigating the use of diagnostic tools. […] Accurate phenotyping and (sub)classification of patients with dystonia is important for improving diagnosis, subsequent treatment effect and population-based study outcomes in research. Medical practitioners should be attentive to the presence of nonmotor symptoms in dystonia.

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