Guillain-Barre syndrome (GBS) is an acute immune-mediated disease of the peripheral nerves and nerve roots (polyradiculoneuropathy) that is usually elicited by various infections. We present a case of GBS after receiving the second dose of Pfizer-COVID 19 vaccine. Diagnosis was made after performing an accurate clinical examination, electromyoneurography and laboratory tests.
View Article and Find Full Text PDFNon-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres.
View Article and Find Full Text PDFBackground: No uniform criteria for a sensitive identification of the transition from relapsing-remitting multiple sclerosis (MS) to secondary-progressive multiple sclerosis (SPMS) are available.
Objective: To compare risk factors of SPMS using two definitions: one based on the neurologist judgment (ND) and an objective data-driven algorithm (DDA).
Methods: Relapsing-onset MS patients ( = 19,318) were extracted from the Italian MS Registry.
An ever-expanding number of disease-modifying drugs for multiple sclerosis have become available in recent years, after demonstrating efficacy in clinical trials. In the real-world setting, however, disease-modifying drugs are prescribed in patient populations that differ from those included in pivotal studies, where extreme age patients are usually excluded or under-represented. In this multicentre, observational, retrospective Italian cohort study, we evaluated treatment exposure in three cohorts of patients with relapsing-remitting multiple sclerosis defined by age at onset: paediatric-onset (≤18 years), adult-onset (18-49 years) and late-onset multiple sclerosis (≥50 years).
View Article and Find Full Text PDFBackground: Dysphagia is a critical symptom of Neuromuscular Diseases and is often associated with considerable morbidity and mortality.
Objective: This study is designed to investigate the prevalence of dysphagia and to identify different clinical profiles of swallowing disorders in Myotonic Dystrophy type 1 (DM1) and Amyotrophic Lateral Sclerosis (ALS), the most common Neuromuscular Diseases in the adult age.
Methods: Consecutive DM1 and ALS patients from 2013 to 2015 referred to a Centre for Neuromuscular Disease were enrolled.