The use of digital tools in rare neurological diseases towards a new care model: a narrative review.

Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options. The rarity of those conditions hampers both the identification of significant prognostic outcome measures, and the development of novel therapeutic approaches and clinical trials. Collection of objective clinical data through digital devices can support diagnosis, care, and therapeutic research.

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021.

Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. From diagnosis to treatment and follow-up, the development of technological solutions can improve the detection of several critical aspects related to the diseases, addressing both the met and unmet needs of clinicians and patients. Among several aspects of the digital transformation of health and care, this congress expands what has been learned from previous congresses editions on applicability and usefulness of technological solutions in NMDs.

Biomolecules of Muscle Fatigue in Metabolic Myopathies.

Metabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to limitations in muscle function with concomitant occurrence of related signs and symptoms, among which fatigue is one of the most frequently reported. Understanding the underlying molecular mechanisms of muscle fatigue in these conditions is challenging for the development of an effective diagnostic and prognostic approach to test targeted therapeutic interventions.

Mutational Profile in 75 Patients With Anti-Myelin-Associated Glycoprotein Neuropathy: Clinical and Hematologic Therapy Response and Hints on New Therapeutic Targets.

Background And Objectives: Neuropathy with antibodies to myelin-associated glycoprotein (MAG) is the most common paraproteinemic IgM neuropathy. Recently, the mutational profile of the and genes has been included in the diagnostic workup of IgM monoclonal gammopathies. The objective of our study was to assess the prevalence of and gene variants in patients with anti-MAG antibody neuropathy.

Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.

Background: To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.

Methods: The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable').

The PRESTO study: awareness of stroke symptoms and time from onset to intervention.

Timely access to medical assistance is the first crucial step to improving clinical outcomes of stroke patients. Many educational campaigns have been organized with the purpose of making people aware of what a stroke is and what is necessary to do after its clinical onset. The PRESTO campaign was organized in Genoa (Italy) to spread easy messages regarding the management of the acute phase of stroke.

Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy.

Introduction: Duchenne muscular dystrophy (DMD) is a devastatingly severe genetic muscle disease characterized by childhood-onset muscle weakness, leading to loss of motor function and premature death due to respiratory and cardiac insufficiency.

Discussion: In the following three and half decades, DMD kept its paradigmatic role in the field of muscle diseases, with first systematic description of disease progression with ad hoc outcome measures and the first attempts at correcting the disease-causing gene defect by several molecular targets. Clinical trials are critical for developing and evaluating new treatments for DMD.

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%).

Fatigue as a common signature of inflammatory myopathies: clinical aspects and care.

Fatigue is a common symptom in idiopathic inflammatory myopathies (IIMs), which greatly affects activities of daily life. Fatigue is a complex phenomenon that covers a range of dimensions from biological to behavioural, the pathophysiology of which is still poorly understood. The aim of this review is to describe the different determinants of fatigue in IIMs, discuss their clinical implications and how to evaluate and manage the condition, which are all relevant issues for the treating physicians in their everyday practice.

Risk Factors for Intracerebral Hemorrhage in Patients With Atrial Fibrillation on Non-Vitamin K Antagonist Oral Anticoagulants for Stroke Prevention.

[Figure: see text].

CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS.

Objective: To validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Guillain-Barré syndrome (GBS) as a reliably assessable biomarker.

Methods: We prospectively enrolled 184 patients from six Italian referral centres, in whom CSF SM levels were quantified by a fluorescence-based assay optimised and patented in our laboratory.

Results: We confirmed increased levels of SM in the CSF of patients affected by typical CIDP (n=35), atypical CIDP (n=18) and acute inflammatory demyelinating polyradiculoneuropathy, AIDP (n=12) compared with patients affected by non-demyelinating neurological diseases, used as controls (n=85) (p<0.

Impact of quarantine due to COVID infection on migraine: a survey in Genova, Italy.

Quarantine is a well-known risk factor for psychological and psychiatric disturbances. We evaluated burden of migraine during lockdown due to COVID 19 pandemia. Forty-nine subjects followed in our headache clinic for migraine were evaluated for migraine burden by means of global assessment of migraine severity (GAMS) and visual analogue scale (VAS) by phone interview.

Correction to: New clinical manifestation of COVID-19 related Guillain-Barrè syndrome highly responsive to intravenous immunoglobulins: two Italian cases.

The above article was published online with inverted given and family names. The correct presentation has been corrected above.

Exercise-Related Oxidative Stress as Mechanism to Fight Physical Dysfunction in Neuromuscular Disorders.

Neuromuscular diseases (NMDs) are a group of often severely disabling disorders characterized by dysfunction in one of the main constituents of the motor unit, the cardinal anatomic-functional structure behind force and movement production. Irrespective of the different pathogenic mechanisms specifically underlying these disease conditions genetically determined or acquired, and the related molecular pathways involved in doing that, oxidative stress has often been shown to play a relevant role within the chain of events that induce or at least modulate the clinical manifestations of these disorders. Due to such a putative relevance of the imbalance of redox status occurring in contractile machinery and/or its neural drive in NMDs, physical exercise appears as one of the most important conditions able to positively interfere along an ideal axis, going from a deranged metabolic cell homeostasis in motor unit components to the reduced motor performance profile exhibited by the patient in everyday life.

Exercise therapy in muscle diseases: open issues and future perspectives.

In muscle diseases different molecular mechanisms are responsible, by distinct cellular pathways, of muscle fibers contraction insufficiency and exercise intolerance. Depending on that, exercise therapy is a promising avenue to efficaciously counteract the loss of muscle fiber function or also the secondary effects due to the sedentary lifestyle as a consequence of the motor impairment. It has been debated whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders, especially in some conditions as eccentric or maximal exercise.

Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database.

Background And Purpose: The role of lifestyle and dietary habits and antecedent events has not been clearly identified in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Methods: Information was collected about modifiable environmental factors and antecedent infections and vaccinations in patients with CIDP included in an Italian CIDP Database. Only patients who reported not having changed their diet or the lifestyle habits investigated in the study after the appearance of CIDP were included.

Planning a campaign to fight stroke: an educational pilot project in La Spezia, Italy.

Introduction: Best medical treatments of ischemic stroke are admission to stroke unit, intravenous thrombolysis and, in selected cases, thrombectomy. Time from symptom onset to interventions is the best predictor of clinical outcome. In order to verify the effectiveness of an active education programme of awareness on the knowledge of stroke, we performed a local campaign "on the field".