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Movement Disorders : Official Journal... Apr 2017Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive... (Review)
Review
Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances. The various motor and nonmotor symptoms are not present in all patients, suggesting that blepharospasm is phenomenologically a heterogeneous condition. This emphasizes the need for tools for severity assessment that take into account both motor and nonmotor manifestations. The cause of blepharospasm remains elusive, but several lines of evidence indicate that blepharospasm is a multifactorial condition in which one, or several, as yet unknown genes together with epigenetic and environmental factors combine to reach the threshold of the disease. Although blepharospasm was originally believed to be solely a basal ganglia disorder, neurophysiological and neuroimaging evidence point to anatomical and functional involvement of several brain regions. The contribution of multiple areas has led to the hypothesis that blepharospasm should be considered as a network disorder, and this might reflect the varying occurrence of motor and nonmotor manifestations in blepharospasm patients. Despite advances in the aetiology and pathophysiology, treatment remains symptomatic. © 2017 International Parkinson and Movement Disorder Society.
Topics: Blepharospasm; Cognition Disorders; Humans; Longitudinal Studies; Mental Disorders; Movement Disorders; Prevalence; Sleep Wake Disorders
PubMed: 28186662
DOI: 10.1002/mds.26934 -
Frontiers in Neurology 2021Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm;... (Review)
Review
Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.
PubMed: 33854473
DOI: 10.3389/fneur.2021.630221 -
Digital Journal of Ophthalmology : DJO Apr 2019Spheroidal degeneration, involving the cornea and/or the conjunctiva, is characterized by amber-colored homogeneous, translucent spherules in the corneal stroma,...
Spheroidal degeneration, involving the cornea and/or the conjunctiva, is characterized by amber-colored homogeneous, translucent spherules in the corneal stroma, Bowman's membrane, and subepithelium. The condition has a higher prevalence in areas with extreme temperatures, low humidity, high wind, and presence of sand. We report the case of a 46-year-old man with a 10-year history of gradual progressive diminution of vision, severe blepharospasm, and photophobia. Examination revealed bilateral plaques of amber-colored nodules covering about half of the cornea. Superficial keratectomy was performed for the lesions in both eyes, leaving an epithelial defect overlying a plane of opaque cornea. Histopathology showed amorphous protein in the anterior stroma, confirming the clinical diagnosis of advanced grade 4 spheroidal degeneration. Visual acuity and other symptoms dramatically improved, and the patient was scheduled for keratoplasty.
Topics: Cornea; Corneal Diseases; Disease Progression; Humans; Keratoplasty, Penetrating; Male; Middle Aged; Visual Acuity
PubMed: 32076391
DOI: 10.5693/djo.02.2019.11.001 -
Translational Neurodegeneration 2017Photophobia is a common symptom seen in many neurologic disorders, however, its pathophysiology remains unclear. Even the term is ambiguous. In this paper, we review the... (Review)
Review
Photophobia is a common symptom seen in many neurologic disorders, however, its pathophysiology remains unclear. Even the term is ambiguous. In this paper, we review the epidemiology and clinical manifestations of photophobia in neurological disorders, including primary headache, blepharospasm, progressive supranuclear palsy, and traumatic brain injury, discuss the definition, etiology and pathogenesis, and summarize practical methods of diagnosis and treatment.
PubMed: 28932391
DOI: 10.1186/s40035-017-0095-3 -
Journal of the Neurological Sciences Aug 2022Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and...
BACKGROUND
Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians.
OBJECTIVE
To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach.
METHODS
Cross-sectional data for subjects diagnosed with all types of isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data were evaluated to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal.
RESULTS
Among all 3222 participants with isolated dystonia, 210 (6.5%) had a diagnosis of focal blepharospasm. Among these 210 participants, 34 (16.2%) had dystonia outside of upper face region. Factors such as dystonia severity across different body regions and number of body regions affected influenced the classification of blepharospasm as focal, segmental, or multifocal.
CONCLUSIONS
Although focal blepharospasm is the second most common type of dystonia, a high percentage of individuals given this diagnosis had dystonia outside of the eye/upper face region. These findings are not consistent with existing guidelines for the diagnosis and classification of focal blepharospasm, and point to the need for more specific guidelines for more consistent application of existing recommendations for diagnosis and classification.
Topics: Blepharospasm; Cross-Sectional Studies; Dystonia; Dystonic Disorders; Humans
PubMed: 35716653
DOI: 10.1016/j.jns.2022.120319 -
Frontiers in Neurology 2017Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical... (Review)
Review
Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias. Papers describing features of dystonia and diagnostic criteria are critically analyzed and put into historical perspective. Issues and inconsistencies in this lumping effort are discussed, and the currently unmet needs are critically reviewed.
PubMed: 28217105
DOI: 10.3389/fneur.2017.00018 -
Aesthetic Surgery Journal May 2017During the late 1960s and early 1970s, Alan Scott showed that intramuscular injections of botulinum toxin (BoNT) corrected nonaccommodative strabismus without resorting... (Review)
Review
During the late 1960s and early 1970s, Alan Scott showed that intramuscular injections of botulinum toxin (BoNT) corrected nonaccommodative strabismus without resorting to surgery. The UK doctors who trained with Scott soon realized the significant potential offered by BoNT type A as a therapeutic option for several difficult-to-treat diseases. This led to a collaboration between these pioneering clinicians and the Centre for Applied Microbiology and Research at Porton Down, United Kingdom, and, in turn, to the development and commercialization of abobotulinumtoxinA as Dysport (Dystonia/Porton Down; Ipsen Biopharm Ltd., Wrexham, UK). Dysport was approved in Europe for the treatment of specific dystonias in December 1990 and now has marketing authorizations in 75 countries. Since then, the use of BoNT in therapeutic and aesthetic indications has grown year-on-year, and continues to expand well beyond Scott's initial aim. For example, ongoing trials are assessing potential new indications for BoNT-A, including acne and psoriasis. Furthermore, a growing number of other BoNT products, often termed "biosimilars," together with innovative formulations of well-established BoNT types, are likely to reach the market over the next few years. This review focuses on the history of Dysport to mark the 25th anniversary of its first launch in the United Kingdom.
Topics: Acne Vulgaris; Biosimilar Pharmaceuticals; Blepharospasm; Botulinum Toxins, Type A; Clinical Trials as Topic; Clostridium botulinum; Cosmetic Techniques; Facial Muscles; Humans; Hyperhidrosis; Injections, Intramuscular; Neuromuscular Agents; Patellofemoral Pain Syndrome; Psoriasis; Skin Aging; Strabismus; United Kingdom
PubMed: 28388718
DOI: 10.1093/asj/sjw284 -
Dystonia (Lausanne, Switzerland) 2022Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study...
OBJECTIVE
Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features.
METHODS
This was a two-part study. The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports. The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region.
RESULTS
For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye soreness or pain (38.7%), photophobia (35.5%), or dry eyes (10.7%). Non-motor psychiatric features were also common including anxiety disorders (34-40%) and depression (21-24%). Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck. Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety.
CONCLUSIONS
This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.
PubMed: 36248010
DOI: 10.3389/dyst.2022.10359 -
Neurology India 2020Facial spasms are of various types. Hemifacial spasm (HFS) is characterized by unilateral tonic-clonic contractions of facial muscles, following a specific pattern of... (Review)
Review
Facial spasms are of various types. Hemifacial spasm (HFS) is characterized by unilateral tonic-clonic contractions of facial muscles, following a specific pattern of disease progression. It has well-delineated clinical, radiological and electrophysiological features. We have conducted an extensive review of existing literature on the subject, as regards etiopathogenesis, clinical features, investigations and management options for facial spasms. Primary Hemifacial spasm (HFS) may be treated using pharmacotherapy, botulinum toxin injections or microvascular decompression surgery. Microvascular decompression has the potential to reverse the pathological changes of the disease and has proved to be the most successful of all treatment options. Other facial spasms are exceedingly difficult to treat and may need neuromodulation as an option. The following article attempts to review the clinical features and therapeutic approaches to managing patients with facial spasms.
Topics: Facial Muscles; Facial Nerve Diseases; Hemifacial Spasm; Humans; Microsurgery; Microvascular Decompression Surgery; Spasm
PubMed: 33318350
DOI: 10.4103/0028-3886.302455 -
Neurology. Clinical Practice Dec 2021Dopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 1 ()-associated... (Review)
Review
PURPOSE OF REVIEW
Dopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 1 ()-associated DRD consists of early-onset lower limb asymmetrical dystonia, with sleep benefit, diurnal variation, and excellent and sustained response to low l-dopa doses.
RECENT FINDINGS
Unlike the classic phenotype, -associated DRD may include features inconsistent with the original phenotype. We describe a -associated late-onset DRD case with a family history of parkinsonism and cervical dystonia whose response to levodopa was poor and complicated with dyskinesia, blepharospasm, and severe nonmotor symptoms. We use this case as a springboard to review the spectrum of atypical DRD, DRD-plus, and DRD mimics.
SUMMARY
-related dystonia may exhibit wide intrafamilial phenotypic variability, no diurnal fluctuation, poor response to l-dopa, and such complications as dyskinesia, epilepsy, sleep disorders, autonomic dysfunction, oculogyric crisis, myoclonus, or tics. More recently, rare variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics.
PubMed: 34992971
DOI: 10.1212/CPJ.0000000000001125