ABSTRACT
Purpose: The retinal involvement of amyotrophic lateral sclerosis (ALS) is a novel idea about a possible correlation between retinal nerve fiber layer (RNFL) thickness in different spectra of ALS patients. Finding the association of RNFL with disease duration and severity will help identify a novel noninvasive biomarker. Methods: The study was designed as a cross?sectional study and was conducted with a suitable proforma. We included the ALS cases based on the revised El Escorial criteria. Healthy controls were age and gender matched. We used the revised ALS functional rating scale (ALSFRS?R) to assess the operational status of the patients. We measured RNFL thickness in the four quadrants with spectral?domain optical coherence tomography (OCT) and analyzed it. Results: We included 30 cases (60 eyes) and 10 healthy controls (20 eyes) having a mean (standard deviation [SD]) age of 49.5 (11.1) years with a median of 50 years, and a majority of them (65%) were middle aged (between 41 and 60 years). We found statistically significant differences in RNFL thicknesses between ALS patients and healthy controls. On segmental analysis, the right eye superior and nasal quadrants and the left eye superior, inferior, and nasal quadrants were significantly affected, along with a gross asymmetry found between the left and right eyes among ALS patients. There was a significant decrease in average RNFL thickness in definite ALS patients than probable ALS patients, with significantly reduced average RNFL thickness in moderate to severe ALS patients. On correlation analysis, disease duration showed a good negative correlation with bilateral average RNFL thickness, and the ALSFRS?R score demonstrated a good positive correlation with bilateral average RNFL thickness, which was statistically significant. Thus, a reduced bilateral RNFL thickness is associated with a decreased ALSFRS?R score. Conclusion: The retinal changes can serve as a marker for diagnosing and monitoring patients with ALS
ABSTRACT
Background: Hemifacial spasm (HFS) is a distressing, involuntary, irregular tonic-clonic contraction of the facial muscles innervated by the seventh cranial nerve. It affects the quality of life. Botulinum toxin is a preferred symptomatic treatment option for the condition. However, there is a lack of study in the Indian scenario. Therefore, we observed the demographic profile, clinical spectrum, therapeutic response, and adverse effects of botulinum toxin and assessed the quality of life in the pre and postinjection phases in our subjects with HFS. Materials and methods: The study design is a prospective open-label observational study. Consecutive cases of HFS were selected from the general neurology outpatient department (OPD) and movement disorder clinic of a medical college hospital in Eastern India. Clinical and relevant neuroimaging studies excluded mimickers and secondary causes of HFS. Institutional Ethics Committee’s permission was obtained. Informed consent was taken from patients before botulinum toxin injection. The pre and postinjection assessment tools were spasm rate for a specific period of time, quantification of facial asymmetry, widening palpebral fissure by visual analog scale, Jankovic disability rating scale, HFS-7 scale, and videography. Results: A total of 250 cases of HFS (F:M = 138:112) were studied. The mean age of presentation was 47 years. The mean dose of botulinum toxin injection was 24.2 units per patient. The mean duration of improvement was 4 months. The spasm frequency was decreased by 90%, and the facial asymmetry was improved by 86%. The improvement in quality of life was 86%. Local adverse effects are seen in 10.4% of cases, and all were reversible. Conclusion: This is one of the largest studies on the effects of botulinum toxin in subjects with HFS in the Indian population. Periodic injection of botulinum toxin is a safe and effective therapy for subjects with HFS. There is a significant improvement in the quality of life following botulinum toxin therapy in subjects with HFS. Adverse effects were local, mild, well-tolerated, and reversible.