Electrodiagnostic findings in amyotrophic lateral sclerosis: Variation with region of onset and utility of thoracic paraspinal muscle examination.

INTRODUCTION/AIMS: Limited data exist regarding variation of electrodiagnostic (EDX) findings in amyotrophic lateral sclerosis (ALS) patients with different onset regions and specificity of thoracic paraspinal muscle (TPSP) examination for confirming a diagnosis of ALS. We aimed to demonstrate the variation of EDX features and characterize the utility of TPSP muscle examination in the electrodiagnosis of ALS. METHODS: This is a retrospective study of a large cohort of ALS patients who had a comprehensive EDX evaluation. RESULTS: The study included 448 patients; all fulfilled the Gold Coast criteria for ALS. The average age at the time of EDX study was 64 years, and 41.1% were women. The onset region was identified as follows: bulbar (N = 149), cervical (N = 127), lumbosacral (N = 162), and other (N = 10). In contrast to limb onset, bulbar-onset patients more frequently demonstrated a pattern of normal or near normal needle electromyography (EMG) (p < .0001) and less frequently had abnormalities on EMG of TPSP (p = .002). Clinical or EDX diagnosis of sensory polyneuropathy was present in 12.6% patients, more frequently in the lumbosacral onset subgroup (p < .03). EMG showed active denervation in 9.6% and chronic denervation in 59% of craniobulbar muscles examined, without observed difference among different onset regions. TPSP showed higher frequencies of active and chronic denervation in ALS than a group of patients with non-ALS neuromuscular disorders. DISCUSSION: EDX features may differ among ALS patients of different onset regions. TPSP EMG is highly useful in differentiating ALS from non-ALS neuromuscular disorders while the yield of craniobulbar muscles, especially for active denervation, is low.

Three Cases of Reported Improvement in Microsmia and Anosmia Following Naturalistic Use of Psilocybin and LSD.

Cultural awareness of anosmia and microsmia has recently increased due to their association with COVID-19, though treatment for these conditions is limited. A growing body of online media claims that individuals have noticed improvement in anosmia and microsmia following classic psychedelic use. We report what we believe to be the first three cases recorded in the academic literature of improvement in olfactory impairment after psychedelic use. In the first case, a man who developed microsmia after a respiratory infection experienced improvement in smell after the use of 6 g of psilocybin containing mushrooms. In the second case, a woman with anosmia since childhood reported olfactory improvement after ingestion of 100 µg of lysergic acid diethylamide (LSD). In the third case, a woman with COVID-19-related anosmia reported olfactory improvement after microdosing 0.1 g of psilocybin mushrooms three times. Following a discussion of these cases, we explore potential mechanisms for psychedelic-facilitated improvement in olfactory impairment, including serotonergic effects, increased neuroplasticity, and anti-inflammatory effects. Given the need for novel treatments for olfactory dysfunction, increasing reports describing improvement in these conditions following psychedelic use and potential biological plausibility, we believe that the possible therapeutic benefits of psychedelics for these conditions deserve further investigation.

Myasthenic crisis.

Myasthenic crisis (MC) is a life-threatening manifestation of myasthenia gravis (MG) defined by respiratory insufficiency that requires the use of invasive or non-invasive ventilation. This is often the result of respiratory muscle weakness but can also be due to bulbar weakness with upper airway collapse. MC occurs in approximately 15%-20% of patients with MG usually within the first 2 to 3 y of the disease course. Many crises have a specific trigger with respiratory infections being most common; however, no specific trigger is found in 30%-40% of patients. MG patients with a history of MC, severe disease, oropharyngeal weakness, muscle-specific kinase (MuSK) antibodies and thymoma appear to be at higher risk. Most episodes of MC do not occur suddenly, providing a window of opportunity for prevention. Immediate treatment is directed toward airway management and removing any identified triggers. Plasmapheresis is preferred over intravenous immune globulin as the treatments of choice for MC. The majority of patients are able to be weaned from mechanical ventilation within 1 mo and the outcomes of MC are generally favorable. The mortality rate in United States cohorts is less than 5% and mortality in MC seems to be driven by age and other medical co-morbidities. MC does not appear to affect long-term prognosis as many patients are able to eventually achieve good MG control.

Incidence and causes of overdiagnosis of myasthenia gravis.

INTRODUCTION/AIMS: We have encountered non-myasthenic patients being given a diagnosis of myasthenia gravis (MG). This study aims to investigate the frequency of, and factors contributing to, overdiagnosis of MG. METHODS: This is a retrospective analysis of patients referred to our tertiary neuromuscular center for evaluation due to a previously suspected/confirmed MG diagnosis during a 6-year span. RESULTS: A total of 531 patients sought a second opinion regarding their MG diagnosis, and 77 (14.5%) were found to have non-myasthenic conditions. A total of 11 patients tested positive for acetylcholine receptor (AChR) antibodies. Repeated AChR antibodies became negative in five patients while in four patients, AChR binding antibody titers were persistently low. In seven patients, striational antibody was the only positive antibody identified. In 25 patients, a prior electrodiagnostic (EDX) study was deemed positive, including 14 patients with abnormal repetitive nerve stimulation (RNS) and 12 with abnormal single fiber electromyography (SFEMG). Technical issues were noted on prior RNS studies in 8 patients, and repeat RNS was negative in 10 patients. In eight patients with previously abnormal SFEMG, results showed minimal or equivocal abnormalities. In two patients, a repeat SFEMG was normal. Further analysis revealed atypical clinical presentation, deceptively positive ice pack test, clinically insignificant antibody result and misleading EDX finding as main contributors to MG overdiagnosis. DISCUSSION: Overdiagnosis of MG is not uncommon, and occurs more frequently in seronegative patients. To make an accurate diagnosis of MG, there is a need to recognize atypical presentations, and avoid overreliance on minor or non-specific serological and electrodiagnostic findings.

Validation of myasthenia gravis diagnosis in the older Medicare population.

INTRODUCTION/AIMS: Administrative health data has been increasingly used to study the epidemiology of myasthenia gravis (MG) but a case ascertainment algorithm is lacking. We aimed to develop a valid algorithm for identifying MG patients in the older population with Medicare coverage. METHODS: Local older patients (age ≥65) who received healthcare at the Cleveland Clinic and possessed Medicare coverage in 2014 and 2015 were selected. Potential MG patients were identified by using a combination of ICD9 or ICD10 codes for MG and MG-related text-word search. Diagnosis was categorized as "definite MG", "possible MG" or "non-MG" after review of clinical summaries by 5 neuromuscular specialists. Performances of various algorithms were tested by use of the definite MG cohort as a reference standard, and calculation of sensitivity, specificity, and predictive values. RESULTS: A total of 118 988 local older patients with Medicare coverage were identified. Usage of MG ICD codes and text-word search resulted in 125 patients with definite and 67 with possible MG. A total of 45 algorithms involving ICD usage, medication prescription, and specialty visit were tested. The best performing algorithm was identified as 2 office visits using MG ICD codes separated by at least 4 weeks or 1 hospital discharge and 1 office visit each using MG ICD codes separated by at least 4 weeks within the two-year period, resulting in a sensitivity and positive predictive value of 80% for identifying definite MG patients. DISCUSSION: Algorithms using ICD codes can reliably identify patients with MG with a high degree of accuracy.

Opinions on Pneumocystis jirovecii prophylaxis in autoimmune neuromuscular disorders.

Pneumocystis jirovecii (PJ) is ubiquitously present in the environment and capable of causing an interstitial pneumonia in immunocompromised subjects. It has been advocated that routine prophylaxis against PJ be given to patients with autoimmune neuromuscular conditions that require prolonged use of corticosteroid therapy and/or other immunosuppressive agents. Available data, however, suggest that the risk of PJ infection in patients with autoimmune neuromuscular diseases is extremely low and the widespread use of prophylactic therapy is likely unnecessary. Comorbidities, including intestinal lung disease, prolonged lymphopenia, low CD4 count, parenchymal organ failure, and active cancer status, appear to increase the risk for PJ infection, and it is our opinion that these risk factors should be considered to determine the risk of PJ infection and the requirement for prophylaxis.

Lupus Cerebellitis Presenting With Ataxia: A Case Report.

We report a case of a woman with a history of systemic lupus erythematosus who developed persistent ataxia and was diagnosis with lupus cerebellitis. Magnetic resonance imaging of the brain showed T2/FLAIR signal hyperintensity within the cerebellar vermis without mass effect. The patient's condition improved with pulse IV methylprednisolone. This case highlights unique imaging findings within the cerebellum, our diagnostic and treatment regimen, and compares this case to previous literature on similar cases.

Challenges in diagnosing coexisting ocular myasthenia gravis and thyroid eye disease.

Ocular myasthenia gravis (OMG) and thyroid eye disease are two autoimmune conditions that have several overlapping clinical features, and these coexist with a small but not insignificant frequency. Segregating these diagnoses is typically straightforward, but, when the two diseases co-occur in the same individual, making a diagnosis of OMG can be very challenging. In this review we address what is known about the coexistence of OMG and thyroid eye disease and we highlight the clinical features that are suggestive of overlapping conditions. We also describe the major testing approaches used in the diagnosis of these two entities, with special emphasis on the potential shortcomings of individual tests in patients with overlapping disease. In patients with thyroid eye disease, securing a diagnosis of OMG may not be possible on the basis of a single positive test. A multimodal approach using clinical, serologic, imaging, and electrodiagnostic data, is typically required.