Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland

Williams, Laura; McGovern, Eavan; Kimmich, Okka; Molloy, Anna; Beiser, Ines; Butler, John S.; Molloy, Fiona; Logan, P M; Healy, Daniel G.; Lynch, Timothy; Walsh, Richard A.; Cassidy, Lorraine; Moriarty, Paul; Moore, Helena; McSwiney, T.; Walsh, Cathal; O’Riordan, Sean; Hutchinson, Michael

doi:10.1111/ene.13133

Cited by 67 publications

(82 citation statements)

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“…Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal repetitive movements and postures . Adult onset idiopathic focal dystonia (AOIFD) is the commonest form of primary dystonia; cervical dystonia is the most prevalent phenotype . The pathophysiology of AOIFD is considered to involve impaired inhibition at both motor and sensory levels in a complex network of basal ganglia, thalamic, cerebellar, and brainstem structures .…”

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confidence: 99%

Slowed Luminance Reaction Times in Cervical Dystonia: Disordered Superior Colliculus Processing

et al. 2020

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A B S T R AC TBackground: Abnormal temporal discrimination in cervical dystonia is hypothesized to be attributable to disrupted processing in the superior colliculus. The fast, luminance-based, retinotectal pathway, projects to the superior colliculus; chromatic stimuli responses, by the retino-geniculo-calcarine pathway, are up to 30 ms longer. Objectives: We sought to interrogate visual processing and reaction times in patients with cervical dystonia compared with healthy controls. We hypothesized that cervical dystonia patients would have impaired reaction times to luminance based stimuli accessing the retino-tectal pathway in comparison to healthy control participants. Methods: In 20 cervical dystonia and 20 age-matched control participants, we compared reaction times to

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confidence: 99%

Slowed Luminance Reaction Times in Cervical Dystonia: Disordered Superior Colliculus Processing

et al. 2020

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“…Women are affected about twice as often as men. Of note, although the genetic causes of dystonia – especially for adult‐onset focal forms – are still largely elusive, a positive family history is reported in about 20% of dystonia sufferers . Adult‐onset focal dystonia syndromes are by far the most frequent presentations.…”

Section: Epidemiologymentioning

confidence: 99%

“…Adult‐onset focal dystonia syndromes are by far the most frequent presentations. In two recent studies on focal syndromes, the majority of patients had cervical dystonia (69%) or blepharospasm (17%) , whilst other forms were much rarer: limb dystonia (3%–7%), spasmodic dysphonia (1%–3%), musician's dystonia (3%) and oromandibular dystonia (1%).…”

Section: Epidemiologymentioning

confidence: 99%

“…Upper limb tremor is observed in a significant proportion of patients with otherwise isolated focal dystonia syndromes, such as cervical dystonia, focal upper limb dystonia or spasmodic dysphonia . It is accepted that patients with dystonia may have a classic essential tremor phenomenology and later may develop dystonic postures to compose a full‐house clinical picture.…”

Section: Diagnosismentioning

confidence: 99%

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Dystonia: diagnosis and management

Albanese

Giovanni

Lalli

2018

Euro J of Neurology

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Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on patient management is provided here. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. A recent classification has innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features. There are five recognizable physical signs of dystonia: two main signs (dystonic postures and movements) and three additional signs (gestes antagonistes or tricks, mirror dystonia and overflow dystonia). There is still no validation of diagnostic criteria for the different dystonia syndromes, and many cases with mild phenomenology remain undiagnosed. Patients with dystonia also present non-motor features that are variably combined with the movement disorder. The features of the most common inherited and acquired dystonia syndromes are reviewed here. There is clear evidence of genetic-environmental interaction in the determinism of dystonia. The diagnostic process is guided by clinical examination and based on specific laboratory examinations. Symptomatic treatments are available for dystonia: botulinum neurotoxin injections are the primary choice for most focal dystonia syndromes; deep brain stimulation is useful in some generalized and non-generalized syndromes. Additional treatment strategies are currently being assessed.

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“…Дистония занимает третье ме-сто по распространенности среди заболеваний экстрапира-мидной системы после эссенциального тремора и болезни Паркинсона [1].…”

Section: неврология нейропсихиатрия психосоматика 2018;10(1):90-95unclassified

Cranial dystonia

Толмачева

2018

RJTAO

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Cranial dystonia is a common disease of the extrapyramidal nervous system. The clinical manifestations of dystonia are extremely variable; many of its forms are often undiagnosed. Dystonia is a sensorimotor disorder of the nervous system. Damage affects not only one structure, but also a network of the nodes interacting with each other in the somatosensory cortex and associative sensory and motor fields, which play a role in the integration of various sensory modalities coming from both outside the body and from the receptors within it. Botulinum toxin prepara- Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, neuropsychiatry, psychosomatics. 2018;10(1):90-95. DOI: http://dx.doi.org/10.14412/207410(1):90-95. DOI: http://dx.doi.org/10.14412/ -271110(1):90-95. DOI: http://dx.doi.org/10.14412/ -2018 Краниальная дистония91 Неврология, нейропсихиатрия, психосоматика. 2018;10(1): [90][91][92][93][94][95] О Б З О Р Ы же, в 1976 г., C.D. Marsden сообщил еще о 39 по-добных наблюдениях, но дал этому состоя-нию другое наименование -«синдром Брейгеля». Это была его дань доктору R.E. Kelly, который первым обратил внимание на то, что мужчина изображенный на картине «Зевака» Питера Брейгеля Старшего, страдает краниальной дис-тонией. В 1996 г. G.J. Gilbert опубликовал описание изолированной оромандибу-лярной дистонии открывательного ти-па без блефароспазма и предложил на-зывать это заболевание синдромом Брейгеля. Он подчеркивал, что данный синдром отличается от синдрома Мейжа, при котором наблюдается сочетание бле-фароспазма и оромандибулярной дистонии. В 1983 г. J. Jankovic и J. Ford использовали термин «синдром Мейжа» для характеристики сочетания блефароспазма и орофаци-оцервикальной дистонии у 100 паци-ентов. В 1994 г. Casala и G. Deuschl, проанализировали различные типы фокальной дистонии, при которых затронуты мышцы, иннервируемые краниаль-ными нервами: блефароспазм, оромандибулярная дистония, лингвальная дистония, фарингеальная дистония, ларинге-альная дистония и спастический тортиколлис. На основа-нии общего патогенетического механизма авторы объедини-ли их в одну группу под названием «сегментарная кранио-цервикальная дистония», при этом термин «синдром Мей-жа» используется как синоним.Современные консенсусные положения по проблеме дистонии, опубликованные в 2013 г., разработаны боль-шим коллективом специалистов во главе с А. Albanese. Бы-ла создана классификация дистонии по двум направлени-ям: клинические характеристики и этиология. Оценка по клиническим характеристикам включает возраст возник-новения дистонии, заинтересованность определенной час-ти тела, временной паттерн, сочетание с другими двига-тельными нарушениями или неврологическими заболева-ниями. Синдром Мейжа по этой классификации отнесен к сегментарным краниальным дистониям, что соответствует его локализации.Второе направление касается этиологии. Различают первичную и вторичную дистонию. В большинстве случаев наблюдается первичная дистония, этиология которой остает-ся неясной. Вторичная дистония является следствием других заболеваний или воздейс...

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Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland

Cited by 67 publications

References 51 publications

Slowed Luminance Reaction Times in Cervical Dystonia: Disordered Superior Colliculus Processing

Slowed Luminance Reaction Times in Cervical Dystonia: Disordered Superior Colliculus Processing

Dystonia: diagnosis and management

Cranial dystonia

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