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Radiology Case Reports Sep 2023Multiple system atrophy (MSA) is a rare form of adult-onset α-synucleinopathy. Meige syndrome, identified as bilateral blepharospasm and oromandibular dystonia, is a...
Multiple system atrophy (MSA) is a rare form of adult-onset α-synucleinopathy. Meige syndrome, identified as bilateral blepharospasm and oromandibular dystonia, is a type of focal dystonic movement disorder. This case report aims to highlight the clinical features of multiple system atrophy associated with Meige syndrome in a patient. Additionally, we aim to provide the treatment experience in a patient with Meige syndrome as this is an extremely rare clinical case.
PubMed: 37448600
DOI: 10.1016/j.radcr.2023.04.055 -
Journal of the Neurological Sciences May 2024Cranial dystonias (CrD) are challenging to treat. Oral pharmacotherapy is often sub-optimal, while delicate anatomy and limited availability of skilled botulinum toxin...
INTRODUCTION
Cranial dystonias (CrD) are challenging to treat. Oral pharmacotherapy is often sub-optimal, while delicate anatomy and limited availability of skilled botulinum toxin injectors makes this approach risky, and often difficult to access; neurosurgical options e.g. deep brain stimulation, are high-risk in the elderly populations most affected. We observed significant improvement in CrD in 2 patients prescribed Zolpidem+Melatonin combination treatment for insomnia, and therefore trialled this treatment in a further 4 patients with CrD.
METHODS
Six patients were treated with Zolpidem+Melatonin. Pre- and post-treatment videotaped clinical examinations were blindly rated by an independent assessor (EM) and scored using the 'Facial and Oral Movements' section of the abnormal involuntary movements scale (AIMS), as well as the Jankovic rating scale for blepharospasm.
RESULTS
Dystonic features, as measured by the abnormal involuntary movements scale (AIMS) improved by an average of 75% after treatment (6.5±3.1 before treatment to 1.7 +/- 0.8 after treatment). Improvements were also observed in blepharospasm severity scores, and in cervical dystonic features.
CONCLUSION
Zolpidem+Melatonin combination treatment represents a safe and effective treatment for CrD. Low cost and wide availability makes it an attractive option, particularly in resource-constrained healthcare settings, or in patients who have failed, or lack access to alternatives.
Topics: Humans; Zolpidem; Female; Melatonin; Pyridines; Male; Aged; Middle Aged; Treatment Outcome; Drug Therapy, Combination; Video Recording; Dystonia; Dystonic Disorders; Adult
PubMed: 38583390
DOI: 10.1016/j.jns.2024.122986 -
Journal of Neurology Feb 2024To determine longitudinal predictors of health-related quality of life (HR-QoL) in an international multicenter cohort of patients with isolated dystonia.
OBJECTIVE
To determine longitudinal predictors of health-related quality of life (HR-QoL) in an international multicenter cohort of patients with isolated dystonia.
METHODS
Out of 603 dystonia patients prospectively enrolled in the Natural History Dystonia Coalition study, 155 were assessed three times within 2 years for HR-QoL, symptoms of depression, generalized anxiety disorder (GAD), and social anxiety disorder (SAD), as well as dystonia severity and dystonic tremor. In addition, the impact of botulinum neurotoxin (BoNT) injections on HR-QoL was evaluated after 1 year.
RESULTS
Depressive symptoms at baseline predicted lower HR-QoL on all subscales after 2 years (all p ≤ 0.001). Higher GAD scores at baseline predicted lower HR-QoL related to general health, pain and emotional well-being, whereas higher SAD scores predicted higher pain-related QoL after 2 years (all p ≤ 0.006). Dystonia severity at baseline predicted social functioning (p = 0.002). Neither dystonic tremor, age, or sex predicted HR-QoL at 2 years. Two latent categories were revealed across the three-time points: Category 1 with higher total HR-QoL scores (mean HR-QoL = 74.4% ± 16.1), susceptible to symptoms of depression and SAD, and Category 2 with lower total HR-QoL scores (mean HR-QoL = 45.5% ± 17.6), susceptible to symptoms of GAD. HR-QoL improved over the course of 1 year irrespective of the use of BoNT.
CONCLUSION
The longitudinal impact of psychiatric symptoms on HR-QoL emphasizes the importance of incorporating mental health treatment, in particular also the therapy of anxiety disorders, into treatment regimens for dystonia.
Topics: Humans; Child, Preschool; Dystonia; Quality of Life; Tremor; Dystonic Disorders; Pain
PubMed: 37839041
DOI: 10.1007/s00415-023-12022-4 -
Frontiers in Neurology 2023The aim of this clinical study was to assess the impact of a non-invasive selective blue-filtering photochromic lens coating Crizal Prevencia on the treatment and...
OBJECTIVE
The aim of this clinical study was to assess the impact of a non-invasive selective blue-filtering photochromic lens coating Crizal Prevencia on the treatment and response of benign essential blepharospasm (BEB).
PATIENTS AND METHODS
Twenty-four patients were recruited in the outpatient clinic of the Medical University of Vienna in a randomized, double-blind, cross-over study design. Blink frequencies were assessed in patients with BEB before and 14 days after intervention with either a filtering ophthalmic lens or a placebo lens, respectively. Outcome parameters include sub-group analysis of a blink frequency under six different conditions: three photopic conditions, one resting condition, one reading condition, and one video game condition.
RESULTS
From 24 recruited patients, 15 patients were available for final analysis. Comparing the optical blue filtering lens to placebo, showed a reduced blink frequency in specific subtests, but not compared to baseline.
DISCUSSION
In conclusion, optical filtering glasses might have a beneficial effect on BEB and provide a non-invasive therapeutic add-on option, in addition to botulinum neurotoxin therapy, for patients with BEB and should necessarily be further investigated in a multicenter setting, resulting in larger sample sizes to gain valid information about the effect of photochromic blue filter glasses in BEB.: https://drks.de/search/en/trial/DRKS00032135, DRKS00032135.
PubMed: 38164199
DOI: 10.3389/fneur.2023.1301947 -
The Journal of Pharmacology and... Jan 2024Deployment of the tear gas agent 2-chlorobenzalmalononitrile (CS) for riot control has significantly increased in recent years. The effects of CS have been believed to...
Deployment of the tear gas agent 2-chlorobenzalmalononitrile (CS) for riot control has significantly increased in recent years. The effects of CS have been believed to be transient and benign. However, CS induces severe pain, blepharospasm, lachrymation, airway obstruction, and skin blisters. Frequent injuries and hospitalizations have been reported after exposure. We have identified the sensory neuronal ion channel, transient receptor potential ankyrin 1 (TRPA1), as a key CS target resulting in acute irritation and pain and also as a mediator of neurogenic inflammation. Here, we examined the effects of pharmacologic TRPA1 inhibition on CS-induced cutaneous injury. We modeled CS-induced cutaneous injury by applying 10 l CS agent [200 mM in dimethyl sulfoxide (DMSO)] to each side of the right ears of 8- to 9-week-old C57BL/6 male mice, whereas left ears were applied with solvent only (DMSO). The TRPA1 inhibitor HC-030031 or A-967079 was administered after CS exposure. CS exposure induced strong tissue swelling, plasma extravasation, and a dramatic increase in inflammatory cytokine levels in the mouse ear skin. We also showed that the effects of CS were not transient but caused persistent skin injuries. These injury parameters were reduced with TRPA1 inhibitor treatment. Further, we tested the pharmacologic activity of advanced TRPA1 antagonists in vitro. Our findings showed that TRPA1 is a crucial mediator of CS-induced nociception and tissue injury and that TRPA1 inhibitors are effective countermeasures that reduce key injury parameters when administered after exposure. Additional therapeutic efficacy studies with advanced TRPA1 antagonists and decontamination strategies are warranted. SIGNIFICANCE STATEMENT: 2-Chlorobenzalmalononitrile (CS) tear gas agent has been deployed as a crowd dispersion chemical agent in recent times. Exposure to CS tear gas agents has been believed to cause transient acute toxic effects that are minimal at most. Here we found that CS tear gas exposure causes both acute and persistent skin injuries and that treatment with transient receptor potential ion channel ankyrin 1 (TRPA1) antagonists ameliorated skin injuries.
Topics: Male; Mice; Animals; Tear Gases; Ankyrins; TRPA1 Cation Channel; Dimethyl Sulfoxide; o-Chlorobenzylidenemalonitrile; Mice, Inbred C57BL; Pain; Transient Receptor Potential Channels; Chlorobenzenes
PubMed: 38050077
DOI: 10.1124/jpet.123.001666 -
Canadian Journal of Ophthalmology.... Feb 2024To evaluate the effect of a break in botulinum toxin treatment, necessitated by the COVID-19 pandemic, on patients' quality of life.
OBJECTIVE
To evaluate the effect of a break in botulinum toxin treatment, necessitated by the COVID-19 pandemic, on patients' quality of life.
METHODS
Prospective cohort study of all patients undergoing incobotulinumtoxinA treatment in our department-for benign essential blepharospasm (BEB), hemifacial spasm (HFS), aberrant facial regeneration (AFR), or crocodile tears-who were affected by the break in service (March 18, 2020-June 17, 2020). All patients who received treatment both before and after the break in service were included. Data gathered included subjective patient-reported measure of "time until treatment failure" and disease rating scale scores: Blepharospasm-Dystonia Functional Disability Assessment Scale (BDFDAS; for BEB, HFS, and AFR); Jankovic Rating Scale (JRS; for BEB and HFS); and TEARS Epiphora Grading Scale (for crocodile tears).
RESULTS
Across 72 patients, there was a mean treatment delay of 3.9 months (range, 0-9.8 months). After a period of effect, treatment failed in all patients, with a mean time until treatment failure of 3.9 months (range, 0.5-12.0 months). All patient-reported outcome measurements increased, with greatest effect seen in AFR (178% increase in BDFDAS) and BEB (41% increase in JRS). At least 2 patients sought and underwent retreatment elsewhere in the private sector because of their symptom severity.
CONCLUSIONS
Patients with AFR and BEB are likely to tolerate a break in service least, whereas patients with crocodile tears appear to be less affected. This real-world snapshot allows quantification of the harm caused by a break in botulinum toxin service or a treatment delay. This study provides valuable information should further breaks in service or treatment delay be considered in the future due to a further wave of COVID-19 or other reasons.
Topics: Humans; Prospective Studies; Quality of Life; Pandemics; COVID-19; Blepharospasm; Hemifacial Spasm; Lacrimal Apparatus Diseases
PubMed: 36372133
DOI: 10.1016/j.jcjo.2022.10.017 -
Human Brain Mapping Jan 2024Neuromelanin-sensitive magnetic resonance imaging quantitative analysis methods have provided promising biomarkers that can noninvasively quantify degeneration of the...
Neuromelanin-sensitive magnetic resonance imaging quantitative analysis methods have provided promising biomarkers that can noninvasively quantify degeneration of the substantia nigra in patients with Parkinson's disease. However, there is a need to systematically evaluate the performance of manual and automated quantification approaches. We evaluate whether spatial, signal-intensity, or subject specific abnormality measures using either atlas based or manually traced identification of the substantia nigra better differentiate patients with Parkinson's disease from healthy controls using logistic regression models and receiver operating characteristics. Inference was performed using bootstrap analyses to calculate 95% confidence interval bounds. Pairwise comparisons were performed by generating 10,000 permutations, refitting the models, and calculating a paired difference between metrics. Thirty-one patients with Parkinson's disease and 22 healthy controls were included in the analyses. Signal intensity measures significantly outperformed spatial and subject specific abnormality measures, with the top performers exhibiting excellent ability to differentiate patients with Parkinson's disease and healthy controls (balanced accuracy = 0.89; area under the curve = 0.81; sensitivity =0.86; and specificity = 0.83). Atlas identified substantia nigra metrics performed significantly better than manual tracing metrics. These results provide clear support for the use of automated signal intensity metrics and additional recommendations. Future work is necessary to evaluate whether the same metrics can best differentiate atypical parkinsonism, perform similarly in de novo and mid-stage cohorts, and serve as longitudinal monitoring biomarkers.
Topics: Humans; Parkinson Disease; Sensitivity and Specificity; Magnetic Resonance Imaging; Biomarkers; Substantia Nigra; Melanins
PubMed: 38041476
DOI: 10.1002/hbm.26544 -
Clinical Medicine Insights. Case Reports 2024Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often...
Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often accompanied by complex movements of the eyelids, lower facial muscles, mandible, and neck muscles. Bilateral blepharospasm is the most common feature of this disease. In this case report, we present the successful treatment of refractory blepharospasm in a 72-year-old woman with Meige syndrome via 2 incisions resulting from myectomy and in situ surgery.
PubMed: 38751963
DOI: 10.1177/11795476241254266 -
Tremor and Other Hyperkinetic Movements... 2024Tourette syndrome (TS) is a neurologic condition characterized by motor and phonic tics. Dystonic tics, including blepharospasm, are considered atypical or unusual in...
BACKGROUND
Tourette syndrome (TS) is a neurologic condition characterized by motor and phonic tics. Dystonic tics, including blepharospasm, are considered atypical or unusual in severe TS.
CASE REPORT
We report a severe case of TS with facial dystonic tics resembling blepharospasm in which the microlesion effect and a sustained therapeutic effect was observed with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS).
DISCUSSION
Bilateral GPi DBS can be beneficial for blepharospasm-like tics and severe symptoms of TS. The improvements seen can be explained by the microlesion effect induced by DBS lead placement in the GPi.
Topics: Humans; Tics; Blepharospasm; Globus Pallidus; Tourette Syndrome; Electrodes
PubMed: 38249547
DOI: 10.5334/tohm.837 -
Cureus Mar 2024Apraxia of eyelid opening (AEO) is occasionally seen in Parkinson's disease (PD) or related diseases. However, many clinicians have trouble with the management of AEO by...
Apraxia of eyelid opening (AEO) is occasionally seen in Parkinson's disease (PD) or related diseases. However, many clinicians have trouble with the management of AEO by Parkinsonism. In this report, we describe a case of AEO in Parkinsonism improved by trihexyphenidyl (THP). The patient was a 64-year-old woman, who was previously healthy but developed bradykinesia. She was clinically diagnosed as PD due to an L-dopa challenge test, but no other detailed tests were performed. She started antiparkinsonian medications and her symptoms were improved at an early phase. However, her motor symptoms were gradually exacerbated over time, and antiparkinsonian medications were dosed up. At 69 years old, blepharospasm and AEO developed. Although other antiparkinsonian medications did not improve her AEO, THP cured AEO dramatically at 73 years old. In this report, we discuss a mechanism of AEO by Parkinsonism and the pathway of THP for the improvement of AEO.
PubMed: 38618350
DOI: 10.7759/cureus.56232