Dystonia updates: definition, nomenclature, clinical classification, and etiology

Grütz, Karen; Klein, Christine

doi:10.1007/s00702-021-02314-2

Cited by 52 publications

(40 citation statements)

References 58 publications

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“…Dystonia manifests as prolonged involuntary twisting movements that occur either in isolation or in combination with other neurological symptoms. 1,2 The pathophysiology of dystonia is complex with cellular and circuit dysfunctions from multiple regions implicated thus far. 3 Functional and molecular deficiencies observed in animal models and in multiple inherited forms of dystonia include cholinergic dysfunction, [4][5][6][7][8][9][10] impaired inhibition, [11][12][13][14][15] abnormal connectivity, [16][17][18][19][20][21] and deficits in plasticity.…”

mentioning

confidence: 99%

Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia

2022

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A BS TRACT: The quest to elucidate nervous system function and dysfunction in disease has focused largely on neurons and neural circuits. However, fundamental aspects of nervous system development, function, and plasticity are regulated by nonneuronal elements, including glial cells and the extracellular matrix (ECM). The rapid rise of genomics and neuroimaging techniques in recent decades has highlighted neuronal-glial interactions and ECM as a key component of nervous system development, plasticity, and function. Abnormalities of neuronal-glial interactions have been understudied but are increasingly recognized to play a key role in many neurodevelopmental disorders. In this report, we consider the role of myelination and the ECM in the development and function of central nervous system motor circuits and the neurodevelopmental disease dystonia.

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confidence: 99%

Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia

2022

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“…Dystonia is one of the most common movement disorders after Parkinson’s disease (PD) and essential tremor [ 1 , 2 ]. It is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal repetitive movements and postures, often with no structural brain abnormalities [ 3 ]. Its clinical presentation ranges from an isolated clinical feature—isolated or primary dystonia—to multi-systemic disorders where dystonia is only a co-occurring sign together with other neurological deficits, particularly in disorders that manifest parkinsonism [ 4 ].…”

Section: Parkinsonism-related Movement Disordersmentioning

confidence: 99%

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

Díez-Fairén

Jerez

Berghausen

et al. 2021

IJMS

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In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing a deeper molecular understanding of the complex genetic architecture underlying these conditions. These disorders are difficult to accurately diagnose and categorize, thus making genetics research challenging. On one hand, dystonia is an umbrella term linked to clinically heterogeneous forms of disease including dopa-responsive dystonia, myoclonus-dystonia, rapid-onset dystonia-parkinsonism and dystonia-parkinsonism, often viewed as a precursor to Parkinson’s disease. On the other hand, atypical parkinsonism disorders, such as progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration, are rare in nature and represent a wide range of diverse and overlapping phenotypic variabilities, with genetic research limited by sample size availability. The current review summarizes the plethora of available genetic information for these diseases, outlining limits and future directions.

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“…Cervical dystonia (CD) is a is focal dystonia of the cervical region primarily characterized by involuntary contractions of the neck muscles, resulting in twisting and repetitive movements, and abnormal postures of the head. CD may also present with tremor [ 1 , 2 ]. It is one of the most common forms of adult-onset dystonia with a recent estimated incidence of about 1.18 per 100,000 person-years [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Development of a patient journey map for people living with cervical dystonia

Benson¹,

Albanese

Bhatia³

et al. 2022

Orphanet J Rare Dis

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Background Patient journey maps are increasingly used as a tool that enables healthcare providers to refine their service provision to best meet patient needs. We developed a cervical dystonia patient journey map (CDPJM) that describes the holistic patient experience from pre-diagnosis through to long-term treatment. Methods The CDPJM was developed in 2 stages; a patient survey (open questions and multichoice) of 15 patients with CD was conducted to inform the design of the CDPJM, which was then refined and validated by an expert-patient focus group. Results Qualitative analysis of the patient survey supported five key stages of the patient journey: symptom onset, diagnosis and therapeutic relationship with healthcare professionals, initiation of care for CD, start of CD treatment, and living with treated CD. Following symptom onset, survey respondents described having multiple visits to their family doctor who prescribed strong pain killers and muscle relaxants and referred their patient to up to 10 different specialists for diagnosis. Over half (53.3%) of respondents had received ≥ 1 misdiagnosis. Respondents reported relief at having a diagnosis but a lack of understanding of the prognosis and treatment options; 46.7% said their neurologist did not spend enough time addressing their concerns. Survey respondents reported using a variety of alternative sources of information, including the internet (86.7%), self-help groups (66.7%) and information leaflets provided by health care professionals (60.0%). While botulinum toxin (BoNT) was consistently discussed as the main treatment option, some neurologists also mentioned physiotherapy, counselling, and other complementary approaches. However, patients were often left to seek complementary services themselves. Patients reported a ‘rollercoaster’ of relief with BoNT treatment with symptoms (and subsequent impact on daily life) returning towards the end of an injection cycle. “When BoNT works well I can return to an almost normal life … when the injections stop working so well, I have to rest more and avoid going to work and experience life restrictions.” Conclusions We present the first patient journey map for CD that can be used to guide local service mapping and to compare current provision with what patients say they want and need.

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Dystonia updates: definition, nomenclature, clinical classification, and etiology

Cited by 52 publications

References 58 publications

Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia

Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

Development of a patient journey map for people living with cervical dystonia

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