Clinical, Genetic and Therapeutic Aspects in Congenital Myasthenic Syndromes

Dear Colleagues,

Congenital myasthenic syndromes represent a complex and heterogeneous group of genetically determined diseases related to the neuromuscular junction. The existence of more than 35 distinct clinical-genetic types reveals the complexity of new clinical, neurophysiological, and pathophysiological knowledge that has emerged, especially in the last two decades. Although most diagnoses currently depend on the availability of genetic testing in specialized centers for neuromuscular disorders, clinical suspicion is a key step, as several cases of congenital myasthenia are initially misdiagnosed and frequently remain undiagnosed. Several motor contexts of these genetic disorders start during childhood, infancy, or neonatal or even prenatal periods; however, there is a large number of still underrecognized cases with late-onset presentations during adulthood or even lately in the elderly.

It is imperative that clinicians consider the possibility of inherited disorders of the neuromuscular junction in different complex clinical scenarios, including: (i) syndromic presentations (e.g., Pierson syndrome, Escobar syndrome); (ii) complex presentations of neuromuscular junction disorder with multisystemic involvement (e.g., ophthalmological, renal, skin, or cardiac involvement); (iii) refractory myasthenia gravis, especially in seronegative presentations; (iv) family history suggestive of other members with motor symptoms and/or signs suggestive of neuromuscular junction compromise; and (v) neurophysiological findings highly suggestive of a specific conditions (e.g., slow-channel syndrome).

It is of fundamental importance that new research associated with congenital myasthenia can be produced and reach an increasing number of clinicians and researchers in the field of neuromuscular disorders, enabling better health care for patients with these rare diseases and better treatments, as well as more appropriate guidance regarding potential complications and extra-neuromuscular manifestations.

We invite you to submit your research to this Special Issue of Muscles. We expect to receive different types of manuscripts, including case reports, reviews, and original articles, which may contribute to a better understanding of clinical and pathophysiological aspects related to congenital myasthenic syndromes, expand the current knowledge about neurophysiological patterns seen in congenital myasthenia, and widen the perspective of new therapeutic options to treat these disorders. This issue aims to bring an updated view of recent achievements in the studies related to congenital myasthenic syndromes, as well as also contribute with original content for the neurologist, neuromuscular disease specialist, pediatric neurologist, neurophysiologist, geneticist, and internist.

Dr. Wladimir Bocca Vieira De Rezende Pinto
Dr. Paulo Victor Sgobbi de Souza
Guest Editors

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• congenital myasthenic syndromes
• congenital myasthenia
• myasthenia gravis
• neurogenetics
• neuromuscular disorders
• rare diseases