Dear Colleagues,

Background and History of this topic: In recent years, the diagnosis of neuromuscular diseases has presented important advances for the development of new investigation methods; for example, skin biopsy was developed to identify small fiber neuropathies, which were difficult to identify before the advent of this tool. This field is particularly timely considering the correlation of small fiber neuropathy with COVID-19 infection and vaccines. Another important advance in the diagnosis of neuromuscular diseases is the easily available screening for hereditary transthyretin amyloidosis (hATTR), which today is also possible to use on saliva. Because of the easily available test screening for hATTR, the screening is now conducted routinely in patients with unexplained peripheral neuropathy. The early diagnosis of this condition is important as it is a treatable condition, considering that various therapies have been developed that can substantially impact the course of the disease. Regarding therapy, important advances were achieved for the implementation of new therapies in additional neuromuscular diseases, both genetic (i.e., gene therapies for spinal muscular atrophy) and acquired (such as immunomodulatory therapy in myasthenia gravis or CIDP). Furthermore, an update on the diagnosis and treatment of many different, but equally important, neuromuscular disorders such as Lambert Eaton myasthenic syndrome, myotonic dystrophy, Charcot Marie Tooth, facioscapulohumeral muscular dystrophy, and immune-mediated inflammatory myopathies is also important to highlight and update the most recent clinical guidelines. The clarification and updating of the diagnosis and treatment, including rehabilitation management, of the main neuromuscular diseases is an important service for clinicians who manage these diseases to make the clinical management of these pathologies increasingly effective and standardized.

Aim and Scope of the Special Issue: We aim to report clinical guidelines and to enhance recent evidence on the diagnosis, therapy, and rehabilitation of neuromuscular disorders.

Cutting-edge research: Papers dealing with the diagnosis, therapy, and rehabilitation of neuromuscular diseases are welcome. In particular, studies deepening innovative diagnostic tools or newly implemented treatments for neuromuscular diseases are particularly appreciated. Furthermore, studies that targeted clinical guidelines for neuromuscular disorders are also welcome.

Types of papers solicited: Original articles and systematic reviews.

Dr. Vincenzo Donadio
Guest Editor

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• neuromuscular diseases
• autonomic dysfunctions
• pain
• small fiber neuropathies
• Fabry disease
• hereditary transthyretin amyloidosis
• myasthenic disorders
• myopathies
• diagnosis and treatment