ContributorsGIW wrote and revised the manuscript in response to co-author comments. He finalized all the figures and tables, performed the literature search, and assisted with data interpretation. HJK critically reviewed the manuscript and made important suggestions to improve it. He assisted with data interpretation. IBA performed the data analysis, constructed the figures and tables, and made important suggestions to improve the manuscript. H-CK assisted with the data analysis and also reviewed the manuscript. GRC critically reviewed the manuscript and made important suggestions to improve it. He assisted with data interpretation. All other authors were given the opportunity to review the manuscript and make suggestions which GIW received, either revising the paper or providing explanations. All who are not deceased were involved with approval of the manuscript.

Antititin antibodies have high PPV and NPV for thymoma in EOMG. In MG without thymoma, antititin antibodies can be considered as markers of LOMG, but not of a severe course in our MG cohort.

Background: Although approximately half of myasthenia gravis (MG) patents achieve remission, for the remaining group MG is often a lifelong disease. Better understanding of the determinants of Quality of Life (QoL) in MG is needed to optimize treatment goals in chronic cases. Materials and Methods: We performed a single center cross-sectional study in 339 MG adult patients (64.9% women), with ocular or generalized disease. SF-36 and a structured questionnaire was administered, including information on previous and current MG severity, medications, comorbidities, education, occupation and BMI of the patient. Mean disease duration was 7.5 + 9.3 years. Current age was 51.6 + 18.3 years, 55% had Early-Onset (<50 years) MG. Results: There were no statistically significant differences in mean SF-36 subscores between women and men. Worse MGFA class was related to lower QoL in physical (PCS) and mental (MCS) subscore (p = 0.000 for both). Patients with MGFA I-II class had significantly better QoL in physical and mental subscores than patients with more severe MG (p < 0.005). Late-onset MG patients had worse QoL than EOMG in physical score domain PCS (p = 0.049). Overweight and obese patients had lower PCS (p = 0.002) and MCS (p = 0.038) than patients with normal BMI. University education was related to statistically higher PCS (p = 0.015) and MCS (p = 0.006). QoL in currently employed was better in PCS and MCS (p = 0.000), with white collar workers reporting higher PCS (p = 0.049) than the remaining group. Patients living with family evaluated their MCS (p = 0.015) better than living alone. Moderate physical activity (twice a week) improved PCS (p = 0.045). Conclusion: Our study confirmed that greater severity of symptoms, age, age of onset but also BMI, type of work, education status and physical activity affect QoL in MG.

Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed in 10 patients. In our group of 11 children, carpal tunnel syndrome was idiopathic in only 1 case. In the remaining subjects, it was secondary to congenital bone anomaly (6), hypothyroidism (2), or myopathic contractures (1). In 1 case, metabolic workup revealed an underlying mucopolysaccharidosis. Our results confirm that idiopathic carpal tunnel syndrome is rare in children. Hand clumsiness and thenar hypoplasia rather than sensory complaints are the presenting symptoms. Whenever carpal tunnel syndrome is diagnosed in a child, a thorough differential diagnosis should be made because of the secondary nature of this disease in most pediatric patients.

Clinical suspicion of HNPP even when nerve conduction study results do not fulfill HNPP criteria should indicate genetic testing. In our patients, early-onset HNPP was associated frequently with isoleucine92valine LITAF polymorphism.

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Peripheral nerves are quite frequently involved in DM2, but abnormalities meeting the criteria of polyneuropathy are rarely found. The incidence of peripheral nerve involvement is similar in both types of myotonic dystrophy.

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