Journal of Clinical Neuromuscular Disease最新文献

Objectives: Up to 50% of small fiber neuropathy (SFN) cases are idiopathic, but novel antibodies to Trisulfated Heparin Disaccharide (TS-HDS) and fibroblast growth factor receptor 3 (FGFR-3) have been implicated in half of these cases; the role of anti-Plexin D1 is less clear. We aimed to clarify presentation and management of these patients.

Methods: An 18-month retrospective analysis revealed 54 cases of cryptogenic SFN who had testing for the 3 autoantibodies. Demographics, clinical features, epidermal nerve fiber density, and Quantitative Sudomotor Axon Reflex Test results were analyzed. Intravenous immunoglobulin (IVIG) treatment response was assessed.

Results: In total, 44.4% of patients had antibodies (62.5% TS-HDS, 29.2% FGFR-3, and 20.8% Plexin D1). Male patients were more likely to be FGFR-3 positive (P = 0.014). Facial involvement was more common in seropositive patients (P = 0.034), and patients with a higher Utah Early Neuropathy Scale score had a higher TS-HDS titer (P = 0.0469), but other clinical features were not significantly different. Seropositive patients trended toward a higher SFN screening list score (P = 0.16), abnormal Quantitative Sudomotor Axon Reflex Test (P = 0.052), and prior erroneous diagnosis (P = 0.19). In patients who completed IVIG, examinations and questionnaires improved and mean epidermal nerve fiber density increased by 297%.

Conclusions: TS-HDS, FGFR-3, and Plexin D1 antibodies are present in a high proportion of cryptogenic SFN cases with more facial involvement, and greater disease severity is associated with higher antibody titers. They are often misdiagnosed but may respond subjectively and objectively to IVIG.

Abstract: We cover intensive care unit-acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients with limb-girdle muscle dystrophy R12 (anoctaminopathy) and a misdiagnosis of idiopathic inflammatory myopathy are provided. The last section on autoimmune myopathy includes articles on clinical and pathologic features associated with myositis-specific antibodies and dermatomyositis, the epidemiology of immune-mediated necrotizing myopathies (IMNMs) in Olmsted County, Minnesota, and features of a German cohort of hydroxy-3-methylglutaryl coenzyme A reductase-associated IMNM. A recent article proposes the benefit of early intravenous immunoglobulin use for adults with IMNM. We also highlight a report of 2 unusual cases of antisignal recognition particle myopathy presenting with asymmetric distal weakness.

Objectives: To evaluate the impact of treatment with eculizumab, a terminal complement inhibitor, on academic and employment status in patients with refractory generalized myasthenia gravis (MG).

Methods: Case review of 7 US patients.

Results: Six patients were aged ≤65 years; one was a full-time student and the remainder were in employment before MG diagnosis. After diagnosis, all patients gave up work (n = 3) or reduced their study/working hours (n = 4). In the 12 months after eculizumab initiation, patients who had stopped work resumed working in some capacity, whereas those who had changed their work/study hours returned to their original work/study pattern. Patients also experienced a reduction in the number of MG exacerbations, and a clinically significant improvement in MG-Activities of Daily Living scores, and were able to reduce other MG medications.

Conclusions: These results suggest that treatment with eculizumab may help maintain education/employment activity in patients with refractory generalized MG.

Objectives: To evaluate the utility of repetitive nerve stimulation test (RNS) for differentiating multifocal motor neuropathy (MMN) and progressive muscular atrophy (PMA).

Methods: We retrospectively enrolled 20 patients with MMN or PMA. We extracted the results of the initial 3-Hz RNS in the ulnar and accessory nerves and compared the percentage and frequency of abnormal decremental responses between both groups.

Results: RNS was performed in 8 ulnar and 9 accessory nerves in patients with MMN, and in 8 ulnar and 10 accessory nerves in patients with PMA. Patients with MMN had a significantly lower decrement percentage (0.6 ± 4.0% in MMN vs. 10.3 ± 6.5% in PMA, P < 0.01) and frequency of abnormal decremental response (0 of 9 in MMN vs. 6 of 10 in PMA, P = 0.01) than patients with PMA in the accessory nerve.

Conclusions: The RNS has clinical utility for differentiating MMN from PMA.