Eyelid dystonia in Machado‐Joseph Disease

Cardoso, Francisco; Oliveira, José Teotônio de; Puccioni-Sohler, Márzia; Fernandes, Alexandre Ribeiro; Mattos, James Pitágoras de; Lopes‐Cendes, Íscia

doi:10.1002/1531-8257(200009)15:5<1028::aid-mds1047>3.0.co;2-#

Cited by 16 publications

(10 citation statements)

References 10 publications

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“…In a few cases, DRT was tried, usually with partial response; seldom were responses marked . The most effective therapy was BoT, but, surprisingly, its use was rarely reported …”

Section: Discussionmentioning

confidence: 99%

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Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic databases up to January 2013. Publications containing descriptions of ADCA clinical features written in several languages were selected initially based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed patients were extracted. Analysis of individual patient data from subjects with movement disorders was performed using the chi-square test and logistic regression. One thousand and sixty-six publications reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755 patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom onset symptom data were available, one third referred a movement disorder as the initial symptom. During overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the absence of ataxia and characterized as responding to dopaminergic medications. Motor complications developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and dystonia were the most common.

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“…In a few cases, DRT was tried, usually with partial response; seldom were responses marked . The most effective therapy was BoT, but, surprisingly, its use was rarely reported …”

Section: Discussionmentioning

confidence: 99%

“…[23][24][25] The most effective therapy was BoT, but, surprisingly, its use was rarely reported. 26,27 Chorea was frequently associated with SCA17, SCA27, and DRPLA, and, in several cases, phenotype was indistinguishable from HD. 4,11,28 Myoclonus was observed often in SCA14 and DRPLA and rarely in other SCA subtypes.…”

Section: Discussionmentioning

confidence: 99%

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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“…AEO is also seen in MSA and corticobasal syndrome, though in the latter the underlying pathology at autopsy is one of PSP rather than true corticobasal ganglionic degeneration (128). It has also been described in cases of amyotrophic lateral sclerosis (ALS) with or without frontotemporal disease, HD, SCA2 (129), SCA3 (130), Wilson’s disease, chorea-acanthocytosis, and others.…”

Section: Apraxia Of Eyelid Opening and Closurementioning

confidence: 99%

Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease

Hamedani

Gold

2017

Front. Neurol.

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Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases. We discuss eyelid disorders, such as ptosis, eyelid retraction, abnormal spontaneous and reflexive blinking, blepharospasm, and eyelid apraxia in the context of the neuroanatomic pathways that are affected. We also review the literature regarding the prevalence of eyelid abnormalities in different neurologic diseases as well as treatment strategies (Table 1).

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“…Case reports on BTX [100,101] BTX may be utilized for blepharospasm and focal dystonia. Additional caution is advisable for cervical dystonia (Level U) Case reports and a blinded trial on levodopa [102][103][104] Levodopa/carbidopa or benserazide should be tried dystonia; if no response is seen the treatment should be withdrawn (Level U)…”

Section: Dystoniamentioning

confidence: 99%

“…Two patients experienced improvement of apraxia of eyelid opening and blepharospasm with BTX injection in the orbicularis oculi muscles [100]. Two papers on BTX use for cervical dystonia reported higher adverse events, with improvement in retrocollis, but complicated with dysphagia that lasted several months and required gastrostomy tubes [101].…”

Section: Dystoniamentioning

confidence: 99%