Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders

Dear Colleagues,

Background and History of this topic: Neuromuscular disorders (NMDs) comprise a large group of diseases affecting the peripheral nervous system, characterized by muscles, peripheral nerves, and neuromuscular junction. Progressive muscle weakness is the predominant condition in these disorders, often associated and depending on the specific involved system, with alterations in sensitivity, fatigue, and muscle atrophy, with a variable progression over time.

The diagnosis is often complex, as many of these are rare pathologies which require multidisciplinary support at dedicated centers, often representing a challenge for the clinician.

Good knowledge of the natural history of each NMD is essential in ensuring an optimal timing of the therapeutic interventions, which must be performed under the best possible conditions in these usually frail patients. Many of these disorders are treatable if the treatment is initiated early and appropriately. In recent decades, the prognosis of a wide spectrum of NMDs has significantly improved, thanks to the advent of new disease modify therapies. Several treatments have been employed, ranging from corticosteroids and intravenous immunoglobulins to immunosuppressive and targeted therapies, particularly in autoimmune NMDs like Myasthenia gravis and CIDP. Additionally, genetic enzymatic therapies have emerged for certain inherited metabolic myopathies, like Pompe disease. These diverse interventions underscore the necessity of a multidisciplinary approach in treatments.

Aim and Scope

To provide a comprehensive overview of recent developments in the diagnostic, prognostic, and therapeutic realms of NMDs.

Cutting-edge research: We welcome manuscripts focusing on the diagnosis and management of specific forms of neuromuscular diseases. Research exploring the necessity for novel diagnostic biomarkers, such as muscle magnetic resonance imaging and nerve ultrasound, is of particular interest. Additionally, studies investigating immunomodulatory therapies, including monoclonal antibodies, and the role of physical and cognitive rehabilitation in patient care are encouraged. Rare and complex clinical cases that shed light on unique challenges and treatment strategies are also valued contributions.

What kind of papers we are soliciting: Original articles, systematic reviews, and case reports that advance our understanding and management of neuromuscular disorders.

Dr. Vincenzo Di Stefano
Dr. Claudia Vinciguerra
Guest Editors

Manuscript Submission Information

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• neuromuscular disorders
• neurogenetics
• neuroimmunology
• polyneuropathy
• myopathy
• neuromuscular junction disease
• diagnosis
• prognosis
• treatment
• rehabilitation