Surveillance for Acute Flaccid Myelitis - United States, 2018-2022.

Acute flaccid myelitis (AFM) is a serious neurologic condition primarily affecting children; AFM can cause acute respiratory failure and permanent paralysis. AFM is a rare but known complication of various viral infections, particularly those of enteroviruses (EVs). Increases in AFM cases during 2014, 2016, and 2018 were associated with EV-D68 infection. This report examines trends in confirmed AFM cases during 2018-2022 and patients' clinical and laboratory characteristics. The number of AFM cases was low during 2019-2022 (28-47 cases per year); the number of cases remained low in 2022 despite evidence of increased EV-D68 circulation in the United States. Compared with cases during the most recent peak year (2018), fewer cases during 2019-2021 had upper limb involvement, prodromal respiratory or febrile illness, or cerebrospinal fluid pleocytosis, and more were associated with lower limb involvement. It is unclear why EV-D68 circulation in 2022 was not associated with an increase in AFM cases or when the next increase in AFM cases will occur. Nonetheless, clinicians should continue to suspect AFM in any child with acute flaccid limb weakness, especially those with a recent respiratory or febrile illness.

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study aimed to identify pathogenic variants, calculate carrier frequency, and predict the genetic prevalence of autosomal recessive neuromuscular diseases (AR-NMDs). We selected 268 AR-NMD genes and analyzed their genetic variants sourced from the gnomAD database. After identifying the pathogenic variants using an algorithm, we calculated the carrier frequency and predicted the genetic prevalence of AR-NMDs. In total, 10,887 pathogenic variants were identified, including 3848 literature verified and 7039 manually verified variants. In the global population, the carrier frequency of AR-NMDs is 32.9%, with variations across subpopulations ranging from 22.4% in the Finnish population to 36.2% in the non-Finnish European population. The predicted genetic prevalence of AR-NMDs was estimated to be 24.3 cases per 100,000 individuals worldwide, with variations across subpopulations ranging from 26.5 to 41.4 cases per 100,000 individuals in the Latino/Admixed American and the Ashkenazi Jewish populations, respectively. The AR-NMD gene with the highest carrier frequency was GAA (1.3%) and the variant with the highest allele frequency was c.-32-13 T>G in GAA with 0.0033 in the global population. Our study revealed a higher-than-expected frequency of AR-NMD carriers, constituting approximately one-third of the global population, highlighting ethnic heterogeneity in genetic susceptibility.

Sleep disordered breathing assessment in patient with slowly progressive neuromuscular disease.

BACKGROUND: Sleep-disordered breathing (SDB) is common in patients with neuromuscular diseases (NMD). Focusing on hypercapnia may lead to the neglect of other SDB such as obstructive and/or central sleep apnea syndrome (SAS). Our objectives were to assess the risk of inappropriate SDB management according to different screening strategies and to evaluate the prevalence and determinants of isolated and overlapping sleep apnea in patients with slowly progressive NMD. METHODS: This monocentric, cross-sectional, retrospective study analyzed medical records of adult NMD patients referred to a sleep department. Diagnostic strategies, including respiratory polygraphy (RP), nocturnal transcutaneous capnography (tcCO2), and blood gases (BG), were assessed for their performance in diagnosing SDB. Demographics and pulmonary function test results were compared between patients with or without SDB to identify predictors. RESULTS: Among the 149 patients who underwent a full diagnostic panel (RP + tcCO2 + BG), 109 were diagnosed with SDB. Of these, 33% had isolated SAS, and central apneas were predominant. Using single diagnostic strategies would lead to inappropriate SDB management in two thirds of patients. A combination of 2 diagnostic tools resulted respectively in 21.1, 22.9 and 42.2 % of inappropriate SDB management for RP + tcCO2, RP + BG and tcCO2 + BG. CONCLUSION: The significant prevalence of sleep apnea syndrome in patients with slowly progressive NMD highlights the need for increased awareness among clinicians. Improved diagnostics involve a systematic approach addressing both sleep apnea and diurnal and nocturnal alveolar hypoventilation to avoid inappropriate management and limit the consequences of SDB.

Predicting the impact of COVID-19 non-pharmaceutical intervention on short- and medium-term dynamics of enterovirus D68 in the US.

Recent outbreaks of enterovirus D68 (EV-D68) infections, and their causal linkage with acute flaccid myelitis (AFM), continue to pose a serious public health concern. During 2020 and 2021, the dynamics of EV-D68 and other pathogens have been significantly perturbed by non-pharmaceutical interventions against COVID-19; this perturbation presents a powerful natural experiment for exploring the dynamics of these endemic infections. In this study, we analyzed publicly available data on EV-D68 infections, originally collected through the New Vaccine Surveillance Network, to predict their short- and long-term dynamics following the COVID-19 interventions. Although long-term predictions are sensitive to our assumptions about underlying dynamics and changes in contact rates during the NPI periods, the likelihood of a large outbreak in 2023 appears to be low. Comprehensive surveillance data are needed to accurately characterize future dynamics of EV-D68. The limited incidence of AFM cases in 2022, despite large EV-D68 outbreaks, poses further questions for the timing of the next AFM outbreaks.

Neuromuscular diseases associated with COVID-19 vaccines: a systematic review and pooled analysis of 258 patients.

BACKGROUND: Neuromuscular diseases (NMD) emerged as one of the main side effects of the COVID-19 vaccination. We pooled and summarized the evidence on the clinical features and outcomes of NMD associated with COVID-19 vaccination. METHODS: We comprehensively searched three databases, Medline, Embase, and Scopus, using the key terms covering "Neuromuscular disease" AND "COVID-19 vaccine", and pooled the individual patient data extracted from the included studies. RESULTS: A total of 258 NMD cases following COVID-19 have been reported globally, of which 171 cases were Guillain-Barré syndrome (GBS), 40 Parsonage-Turner syndrome (PTS), 22 Myasthenia Gravis (MG), 19 facial nerve palsy (FNP), 5 single fiber neuropathy, and 1 Tolosa-Hunt syndrome. All (100%) SFN patients and 58% of FNP patients were female; in the remaining NMDs, patients were predominantly male, including MG (82%), GBS (63%), and PTS (62.5%). The median time from vaccine to symptom was less than 2 weeks in all groups. Symptoms mainly appeared following the first dose of vector vaccine, but there was no specific pattern for mRNA-based. CONCLUSION: COVID-19 vaccines might induce some NMDs, mainly in adults. The age distribution and gender characteristics of affected patients may differ based on the NMD type. About two-thirds of the cases probably occur less than 2 weeks after vaccination.

Emerging trends and insights in acute flaccid myelitis: a comprehensive review of neurologic manifestations.

Acute Flaccid Myelitis (AFM) is a neurological condition in the anterior portion of the spinal cord and can be characterised as paraplegia (paralysis of the lower limbs), and cranial nerve dysfunction. These lesions are caused by the infection due to Enterovirus 68 (EV-D68); a member of the Enterovirus (EV) family belongs to the Enterovirus species within the Picornavirus family and a Polio-like virus. In many cases, the facial, axial, bulbar, respiratory, and extraocular muscles were affected, hence reducing the overall quality of the patient's life. Moreover, severe pathological conditions demand hospitalisation and can cause mortality in a few cases. The data from previous case studies and literature suggest that the prevalence is high in paediatric patients, but careful clinical assessment and management can decrease the risk of mortality and paraplegia. Moreover, the clinical and laboratory diagnosis can be performed by Magnetic resonance imaging (MRI) of the spinal cord followed by Reverse transcription polymerase chain reaction (rRT-PCR) and VP1 seminested PCR assay of the cerebrospinal fluid (CSF), stool, and serum samples can reveal the disease condition to an extent. The primary measure to control the outbreak is social distancing as advised by public health administrations, but more effective ways are yet to discover. Nonetheless, vaccines in the form of the whole virus, live attenuated, sub-viral particles, and DNA vaccines can be an excellent choice to treat these conditions. The review discusses a variety of topics, such as epidemiology, pathophysiology, diagnosis/clinical features, hospitalisation/mortality, management/treatment, and potential future developments.

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Hereditary neuromuscular disorders (NMDs) are a broad group of clinically heterogeneous disorders with varying inheritance patterns, that are associated with over 500 implicated genes. In the context of a highly consanguineous Pakistani population, we expect that autosomal recessive NMDs may have a higher prevalence compared with patients of European descent. This is the first study to offer a detailed description of the spectrum of genes causing hereditary NMDs in the Pakistani population using NGS testing. To study the clinical and genetic profiles of patients presenting for evaluation of a hereditary neuromuscular disorder. This is a retrospective chart review of patients seen in the Neuromuscular Disorders Clinic and referred to the Genetics Clinic with a suspected hereditary neuromuscular disorder, between 2016 and 2020 at the Aga Khan University Hospital, Karachi and Mukhtiar A. Sheikh Hospital, Multan, Pakistan. The genetic testing for these patients included NGS-based single gene sequencing, NGS-based multi-gene panel and whole exome sequencing. In a total of 112 patients studied, 35 (31.3%) were female. The mean age of onset in all patients was 14.6 years (SD ±12.1 years), with the average age at presentation to the clinic of 22.4 years (SD ±14.10 years). Forty-seven (41.9%) patients had a positive genetic test result, 53 (47.3%) had one or more variants of uncertain significance (VUS), and 12 (10.7%) had a negative result. Upon further genotype-phenotype correlation and family segregation analysis, the diagnostic yield improved, with 59 (52.7%) patients reaching a diagnosis of a hereditary NMD. We also report probable founder variants in COL6A2, FKTN, GNE, and SGCB, previously reported in populations that have possible shared ancestry with the Pakistani population. Our findings reemphasizes that the rate of VUSs can be reduced by clinical correlation and family segregation studies.

Sex differences in neuromuscular disorders.

The prevalence, onset, pathophysiology, and clinical course of many neuromuscular disorders (NMDs) may significantly differ between males and females. Some NMDs are more frequently observed in females, and characterized to show a higher grade of severity during or after the pregnancy. Meanwhile, others tend to have an earlier onset in males and exhibit a more variable progression. Prevalently, sex differences in NMDs have a familiar character given from genetic inheritance. However, they may also influence clinical presentation and disease severity of acquired NMD forms, and are represented by both hormonal and genetic factors. Consequently, to shed light on the distinctive role of biological factors in the different clinical phenotypes, we summarize in this review the sex related differences and their distinctive biological roles emerging from the current literature in both acquired and inherited NMDs.

Acute flaccid myelitis in Switzerland - association with enterovirus D68.

Poliomyelitis-like acute flaccid myelitis associated with enterovirus D68 (EV-D68) has emerged globally during the past decade. Here we describe the first documented case reported from Switzerland, and a second, suspected case occurring in temporal association. AFM occurs primarily in children, is usually heralded by a febrile, respiratory prodrome followed by acute-onset, usually asymmetrical, limb weakness with some predilection for the upper extremities, and respiratory muscle compromise in one third of reported cases. There is no specific therapy and the majority of cases result in permanent neurological sequelae. A comprehensive diagnostic workup and timely reporting to the health authorities are essential. Surveillance of respiratory and stool samples for EV-D68 and other neurotropic enteroviruses is in place in several European countries and warrants consideration in Switzerland. This could entail the extension of the poliomyelitis surveillance program of the Federal Office of Public Health by monitoring and enteroviral typing of respiratory samples from patients with acute flaccid paralysis.

The complete acute and post-acute care course of children affected by acute flaccid myelitis in Western Pennsylvania: A case series.

Acute flaccid myelitis (AFM) is a "polio-like" neurologic disorder of the spinal cord gray matter characterized by asymmetric, flaccid limb weakness of rapid onset following prodromal viral illness. It has affected the pediatric population of the United States since 2014, but there is a paucity of literature describing the post-acute comprehensive rehabilitation management that maximizes functional outcomes for patients. This case series attempts to mitigate this by describing the complete acute and post-acute care course of six children diagnosed with AFM in Western Pennsylvania. It is critical that pediatric rehabilitation medicine providers be knowledgeable about the complex medical and rehabilitation management for patients with AFM.

Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.

BACKGROUND AND PURPOSE: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS-CoV-2 is limited. The aim of this study was to determine factors associated with the severity of COVID-19 outcomes in people with NMDs. METHODS: Cases of NMD, of any age, and confirmed/presumptive COVID-19, submitted to the International Neuromuscular COVID-19 Registry up to 31 December 2021, were included. A mutually exclusive ordinal COVID-19 severity scale was defined as follows: (1) no hospitalization; (2) hospitalization without oxygenation; (3) hospitalization with ventilation/oxygenation; and (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs) for severe outcome, adjusting for age, sex, race/ethnicity, NMD, comorbidities, baseline functional status (modified Rankin scale [mRS]), use of immunosuppressive/immunomodulatory medication, and pandemic calendar period. RESULTS: Of 315 patients from 13 countries (mean age 50.3 [±17.7] years, 154 [48.9%] female), 175 (55.5%) were not hospitalized, 27 (8.6%) were hospitalized without supplemental oxygen, 91 (28.9%) were hospitalized with ventilation/supplemental oxygen, and 22 (7%) died. Higher odds of severe COVID-19 outcomes were observed for: age ≥50 years (50-64 years: OR 2.4, 95% confidence interval [CI] 1.33-4.31; >64 years: OR 4.16, 95% CI 2.12-8.15; both vs. <50 years); non-White race/ethnicity (OR 1.81, 95% CI 1.07-3.06; vs. White); mRS moderately severe/severe disability (OR 3.02, 95% CI 1.6-5.69; vs. no/slight/moderate disability); history of respiratory dysfunction (OR 3.16, 95% CI 1.79-5.58); obesity (OR 2.24, 95% CI 1.18-4.25); ≥3 comorbidities (OR 3.2, 95% CI 1.76-5.83; vs. ≤2; if comorbidity count used instead of specific comorbidities); glucocorticoid treatment (OR 2.33, 95% CI 1.14-4.78); and Guillain-Barré syndrome (OR 3.1, 95% CI 1.35-7.13; vs. mitochondrial disease). CONCLUSIONS: Among people with NMDs, there is a differential risk of COVID-19 outcomes according to demographic and clinical characteristics. These findings could be used to develop tailored management strategies and evidence-based recommendations for NMD patients.

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

OBJECTIVE: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenicity of those variants. METHODS: In the past five years, we have collected clinical and molecular information on 512 patients with neuromuscular symptoms referred to our center. To pinpoint variants in COLVI genes and corroborate their real pathogenicity, we sketched a multistep flowchart, taking into consideration the bioinformatic weight of the gene variants, their correlation with clinical manifestations and possible effects on protein stability and expression. RESULTS: In Step I, we identified variants in COLVI-related genes in 48 patients, of which three were homozygous variants (Group 1). Then, we sorted variants according to their CADD score, clinical data and complementary studies (such as muscle and skin biopsy, study of expression of COLVI on fibroblast or muscle and muscle magnetic resonance). We finally assessed how potentially pathogenic variants (two biallelic and 12 monoallelic) destabilize COL6A1-A2-A3 subunits. Overall, 15 out of 512 patients were prioritized according to this pipeline. In seven of them, we confirmed reduced or absent immunocytochemical expression of collagen VI in cultured skin fibroblasts or in muscle tissue. CONCLUSIONS: In a real-world diagnostic scenario applied to heterogeneous neuromuscular conditions, a multistep integration of clinical and molecular data allowed the identification of about 3% of those patients harboring pathogenetic collagen VI variants.

Neuromuscular diseases and social distance resulting from the COVID-19 pandemic.

BACKGROUND: Coronavirus 2 severe acute respiratory syndrome (SARS-CoV-2), generically called COVID-2019, classified as a pandemic by the World Health Organization, has made health practices around the world face unique challenges. Since then, physical distancing and measures such as confinement have been adopted by different governments to control human-to-human transmission. This distance affected the treatment of individuals with progressive diseases such as neuromuscular diseases (NMDs). OBJECTIVE: To identify how patients with NMDs performed the therapeutic routine during social distancing and confinement resulting from the COVID-19 pandemic. METHODS: Application of a questionnaire prepared in the Google forms application, whose link for access and participation was sent by email or WhatssApp for family members and/or individuals with DNMs to respond. The questionnaire consisted of multiple-choice questions, divided into the following sections: personal data, treatments performed before and during the pandemic, activities performed during confinement, and characterization of motor function in activities of daily living comprising the period between September and October 2020. RESULTS: We observed a significant reduction in medical appointments for patients with NMDs. On the other hand, the results showed that most patients underwent motor and/or respiratory physiotherapy in person or by telemonitoring. The study participants reported spending more time playing indoors, and all pointed out motor changes during social distancing. CONCLUSION: There were changes in the therapeutic routine of patients with NMDs during the period of social distancing due to COVID-19.

ANTECEDENTES: A síndrome respiratória aguda grave por coronavírus 2 (SARS-CoV-2), genericamente chamada de COVID-2019, classificada como pandemia pela Organização Mundial da Saúde, tem feito as práticas de saúde em todo o mundo enfrentar desafios únicos. Desde então, o distanciamento físico e medidas como o confinamento foram adotadas por diferentes governos para controlar a transmissão inter-humana. Este distanciamento afetou o tratamento de indivíduos com doenças progressivas, como no caso das doenças neuromusculares (DNMs). OBJETIVO: Identificar como os pacientes com DNMs realizaram a rotina terapêutica durante o distanciamento social e confinamento decorrentes da pandemia de COVID-19. MéTODOS: Aplicação de um questionário elaborado no aplicativo Google forms, cujo link para acesso e participação foi enviado por e-mail ou WhatssApp para familiares e/ou indivíduos com DNMs responderem. O questionário consistiu em questões de múltipla escolha, dividido nas seguintes sessões: dados pessoais, tratamentos realizados antes e durante a pandemia, atividades realizadas durante o confinamento e caracterização das funções motoras nas atividades de vida diária, referente ao período de setembro a outubro de 2020. RESULTADOS: Observamos uma redução significativa nas consultas médicas dos pacientes com DNMs. Por outro lado, os resultados demonstraram que a maior parte dos pacientes realizou fisioterapia motora e/ou respiratória de modo presencial ou por telemonitoramento. Os participantes do estudo relataram gastar mais tempo com atividades dentro de casa, além de todos terem apontado mudanças motoras durante o distanciamento social. CONCLUSãO: Houve mudanças na rotina terapêutica de pacientes com DNM durante o período de distanciamento social da COVID-19.

Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.

Deleterious genetic variants are an important cause of skeletal muscle disease. Immunohistochemical evaluation of muscle biopsies is standard for the diagnosis of muscle disorders. The prevalence of alleles causing hyperkalemic periodic paralysis (HYPP), malignant hyperthermia (MH), polysaccharide storage myopathy 1 (PSSM1), glycogen branching enzyme deficiency (GBED), myotonia congenita (MC), and myosin heavy chain myopathy (MYHM) in horses with muscle disease is unknown. Archived slides processed for immunohistochemical analysis from 296 horses with muscle disease were reviewed blinded and clinical information obtained. DNA isolated from stored muscle samples from these horses were genotyped for disease variants. Histological findings were classified as myopathic in 192, neurogenic in 41, and normal in 63 horses. A third of the population had alleles that explained disease which constituted 45% of the horses with confirmed histological myopathic process. Four of six muscle disease alleles were identified only in Quarter horse breeds. The allele causing PSSM1 was detected in other breeds, and MC was not detected in these samples. The My allele, associated with susceptibility for MYHM, was the most common (62%) with homozygotes (16/27) presenting a more severe phenotype compared to heterozygotes (6/33). All cases with the MH allele were fatal upon triggering by anesthesia, stress or concurrent myopathy. Both, muscle histological and genetic analyses are essential in the investigation of muscle disease, since 10% of the horses with muscle disease and normal histology had a muscle disease causing genetic variant, and 63% of histologically confirmed muscle with alterations had no known genetic variants.

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

BACKGROUND: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. OBJECTIVE: We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. METHODS: Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. RESULTS: There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. CONCLUSION: The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.

Determining Incidence and Risk Factors of Pressure Injury After Orthopaedic Surgery in Children and Adolescents With Neuromuscular Complex Chronic Conditions.

BACKGROUND: Pressure injuries are serious yet often preventable alterations in skin integrity prevalent in orthopaedics, especially in pediatric patients with neuromuscular complex chronic conditions (NCCC). The aims of this study were to (1) estimate incidence of pressure injury in children with NCCC after orthopaedic surgery; (2) determine risk factors for pressure injury development; and (3) describe severity and location of pressure injuries. METHODS: Children and adolescents (<22 y old) with NCCC who underwent orthopaedic surgery at a single tertiary-care children's hospital between 2016 and 2020 were retrospectively identified. A matched case-control design was used to match patients who developed a pressure injury within 1.5 months after surgery to subjects who did not develop a pressure injury using a 1:1 matching based on neuromuscular diagnosis, age, sex, and type of surgery. Patient characteristics, comorbidities, pressure injury characteristics, and a pressure injury risk assessment score utilizing the Braden QD scale were compared across pressure injury groups. RESULTS: Of 564 children with NCCC who underwent orthopaedic surgery, 43 (7.6%) developed a postoperative pressure injury. Pressure injuries were primarily located on the heel, followed by sacral/groin/buttocks, then knee. The most common diagnosis was cerebral palsy with associated neuromuscular scoliosis, and hip reconstruction was the most common surgical procedure. The pressure injury cohort had significantly more patients who were non-ambulatory (GMFCS IV/V), with a seizure disorder, g-tube, nonverbal status, wheelchair usage, and had additional medical devices. Median Braden QD risk score was higher in the injury cohort and a cutoff ≥12 was optimal for predicting pressure injury development. CONCLUSIONS: Pressure injuries after orthopaedic surgery are not uncommon in children with NCCC. The entire care team should be aware of additional risk factors associated with pressure injury development, including the diagnosis of cerebral palsy with neuromuscular scoliosis, seizure disorder, nonverbal status, g-tube, and the presence of multiple medical devices. Implementation of evidence-based pressure injury prevention guidelines on identified high-risk children with NCCC may reduce pressure injury risk and improve the postoperative course. LEVEL OF EVIDENCE: Level III.

Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series.

Gastrointestinal dysfunction in neuromuscular disease is associated with significant morbidity and mortality. It is often underreported despite its prevalence in this cohort. There are a number of issues reported, with gastrointestinal dysmotility and intestinal pseudo-obstruction carrying a poor outcome. We present a case-series of six patients attending a single-centre specialist muscle clinic with a confirmed diagnosis of a neuromuscular disorder (Duchenne muscular dystrophy, mitochondrial disorders, and desmin-related myopathy) and problematic gastrointestinal dysfunction. We advocate prompt recognition and early management, as part of the multi-disciplinary team, to prevent clinical deterioration.

Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?

Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%). Their rarity and diversity pose specific challenges for healthcare and research. Epidemiological data on NMDs are often lacking and incomplete. The COVID-19 pandemic has further highlighted the management difficulties of NMDs patients and the necessity to continue the program of implementation of standard of care. This article summarizes the Italian experience during pandemic.

Using the Acute Flaccid Paralysis Surveillance System to Identify Cases of Acute Flaccid Myelitis, Australia, 2000‒2018.

Since 2012, the United States has reported a distinct syndrome of acute flaccid paralysis (AFP) with anterior myelitis, predominantly in children. This polio-like syndrome was termed acute flaccid myelitis (AFM). Australia routinely conducts AFP surveillance to exclude poliomyelitis. We reviewed 915 AFP cases in Australia for children <15 years of age during 2000‒2018 and reclassified a subset to AFM by using the US Council of State and Territorial Epidemiologists case definition. We confirmed 37 AFM cases by using magnetic resonance imaging findings and 4 probable AFM cases on the basis of cerebrospinal fluid pleocytosis. Nonpolio enteroviruses were detected in 33% of AFM cases from which stool samples were tested. Average annual AFM incidence was 0.07 cases/100,000 person-years in children <15 years of age. AFM occurred sporadically in Australia before 2010 but regularly since then, indicating sustained, albeit rare, clinical manifestation in children. The AFP surveillance system in Australia is well-positioned to identify future AFM cases.