Clara Catharino Pinhati

*Correspondence: claracpinhati@hotmail.com. Abstract Case Presentation: We present the case of a female patient, healthy until 6 months old, when she presented a first episode of hypotonia and weakness in lower members that occurred 3 days after pentavalent and inactivated polio vaccination. The symptoms lasted 7 days and were followed by progressive improvement without any treatment, but she remained with distal motor deficit. Later, she presented two other episodes of muscle weakness, the first at 1 year old, that occurred 7 days after triple viral and pneumococcal vaccination, and the second at 2 years and 8 months old, after a bug bite. On both occasions, she was admitted to the hospital, diagnosed with Guillain-Barré syndrome (GBS) and treated with intravenous immunoglobulin, followed by partial improvement of the symptoms. Electroneuromyography revealed chronic motor axonal polyradiculoneuropathy. Magnetic resonance imaging of the brain and spine were normal. At 2 years and 10 months, the patient was referred to a pediatric neurology center, with suspicion of recurrent Guillain-Barré syndrome. Genetic testing was requested, and exome study revealed a new mutation in the CD59 gene, in homozygosity. This mutation was initially considered a variant of uncertain significance (VUS),but was later reclassified as pathogenic after immunophenotyping test revealed total CD59 deficiency. The patient was treated with Eculizumab (30 doses) and followed by a multidisciplinary team for over one year. She has not presented any new episodes of weakness and exhibited significant improvement of motor function since the beginning of the treatment. Discussion: CD59 deficiency is a rare disease characterized by the presence of chronic hemolysis and, less frequently, recurrent demyelination of the peripheral nervous system, resembling GBS. The case above presented clinical phenotype, laboratory and genotype consistent with CD59 congenital deficiency, confirmed by immunophenotyping test. Previous studies in medical literature are scarce, but have demonstrated benefit in the use of Eculizumab for the prevention of new episodes of demyelination and, in some cases, improvement of the motor deficit, which is consistent with what was observed in our patient. Final Comments: The present report demonstrated that recurrent episodes of peripheral demyelination may be associated to genetic conditions such as congenital deficiency of CD59. The genetic diagnosis allowed appropriate treatment with excellent clinical response. Article published online: 12 May 2025 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

*Correspondence: claracpinhati@hotmail.com. Abstract Background: Nemaline myopathy (NM) is a common structural congenital myopathy, with significant clinical and genetic heterogeneity. Objective: Perform the assessment of respiratory, motor function and the quality of life of patients with different clinical forms of NM. Methods: A cross-sectional study in line with a prospective cohort was carried out in neuromuscular disease reference ambulatory of Hospital das Clínicas in Universidade Federal de Minas Gerais including patients with nemaline myopathy whose diagnosis was made by muscle biopsy and / or histochemical study or genetic study. The sample underwent clinical evaluation, tests to assess respiratory, motor function and QQV. Results: 11 patients with NM were included, divided into 2 groups according to the clinical classification of NM: intermediate form (n = 4) and typical form (n = 7). The intermediate group had worse motor function, respiratory function (seated CV and PFT) and QOL relative to the functional capacity compared to the typical group. The indirect assessment of diaphragmatic strength, through SNIP, showed diaphragmatic weakness in both groups. Conclusion: Patients with NM, in their different clinical forms, may present different levels of respiratory, motor impairment and QOL, justifying the phenotypic variability, which is a characteristic sign of the disease. The importance of diaphragmatic assessment must be stressed, especially in patients with a typical clinical form who may have severe respiratory failure with mild motor impairment and preserved walking ability. The physiotherapeutic evaluation of these patients is of fundamental importance so that the therapeutic plans for rehabilitation are drawn up with greater precision and specificity. Article published online: 12 May 2025 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

*Correspondence: claracpinhati@hotmail.com. Abstract Background: Fatigue is a frequent disabling primary symptom in Spinal Muscular Atrophy (SMA) patients. It results in low levels of physical activity, significantly impairing patients' quality of life. Objective: To evaluate perceived and physiological fatigue in individuals with SMA type 2 and 3, and to establish its relationship with other important aspects, such as muscle strength, motor and respiratory function. Methods: We evaluated fatigue in children and adults with a confirmed genetic diagnosis for SMA, in a cross-sectional observational study, using the Fatigue Severity Scale (FSS, Portuguese version) and Multidimensional Fatigue Scale (PedsQL MFS, Portuguese version) to assessment of perceived fatigue and repeated nine hole peg test (r9HPT) and Endurance Shuttle Walk Test (ESWT) to assess physiological fatigue. Factors associated with fatigue, including muscle strength, motor function and vital capacity (VC) were also evaluated. Results: In total, 28 participants with SMA types 2 and 3 were included, with a mean age of 20.6 ± 11.8 years. Participants' reports of perceived fatigue through the PedsQL MFS were similar to those of caregivers. Perceived fatigue was similar for SMA type 2 and 3 participants (PedsQL MFS self-report: 75.9; 70.5). Perceived fatigue was common in adult participants with 58.4% reporting abnormal or several fatigue (FSS > 4). Perceived fatigue was not associated with motor function, respiratory function and physiological fatigue. All correlations showed alpha levels of p > 0.05. In the evaluation of physiological fatigue through the r9HPT, it was observed that SMA type 2 participants showed significantly worse performance than participants with type 3. The results of the r9HPT were shown to be correlated with the VC and muscle strength of elbow flexors, with a value of p < 0.05. In ambulatory patients who performed the ESWT, none were able to complete the maximum time of 1200 seconds. The median time the test was interrupted was 186.9 seconds, which represents 16% of the maximum time. Conclusion: Fatigue is a frequent and relevant complaint in SMA patients. The relationship between perceived and physiological fatigue is complex and requires a multifactorial approach that encompasses the various mechanisms involved in fatigue in SMA. Article published online: 12 May 2025 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

*Correspondence: gurgelgiannetti@gmail.com. Abstract Background: Spinal Muscular Atrophy (SMA) is the second most common neuromuscular disease in childhood, with an estimated incidence of 1 in 11,000 live births. It leads to progressive muscle weakness and consequently affects functional motor skills. In the last years, therapies that modify the natural history of SMA have been developed, making the use of instruments capable of objectively detecting the response to treatment and clinical evolution of patients essential. Objective: To translate and cross-culturally adapt to Portuguese-Brazil and determine the reliability and validity of the HFMSE (Portuguese-Brazil). Investigate the relationship of motor function with other measures, such as vital capacity (VC), peak cough flow (PCF), muscle strength and joint amplitudes. Methods: The translation process and cross-cultural adaptation followed international guidelines recommendations. Two examiners assessed the participants for interrater reliability, through the analysis of Kappa reliability agreement (k) and Intraclass Correlation Coefficient (ICC). Validation consisted of applying the HFMSE scale and analyzing its correlation with other relevant variables, such as muscle strength, respiratory function and joint amplitudes. Results: The HFMSE was successfully translated and cross- culturally adapted to Portuguese-Brazil. Twenty-eight children/adults SMA type 2 and 3 were enrolled in the study (Type 2 = 14; Type 3 = 14). Fifteen (54%) were women and mean age of 20,6 ± 11, 8 years old. The ICC for the total score showed very high reliability (ICC =1.00). A statistically significant correlation was observed between the HFMSE and the VC measurement (p < 0.001), however there was no significance (p > 0.05) for the PCF measurement. Regarding the presence of contractures, it was observed that hip and knee flexor contractures are found in 92.9% of SMA type 2 participants and are directly correlated with the score obtained in the HFMSE (p < 0.05). The muscle strength values obtained using the manual dynamometer were significantly higher in SMA type 3 participants compared to type 2 SMA participants. Through the results, it was possible to observe that the knee extensors (2.4 ± 3.1 lbs) were the most compromised muscle group in both phenotypes. Conclusion: The HFMSE (Portuguese-Brazil) proved to be valid and reliable for the evaluation of patients with SMA type 2 and 3 in Brazil Article published online: 12 May 2025 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil