Get your full text copy in PDF
Ezequiel F. Oliveira, Sergio Roberto Nacif, Eduardo Araújo Perez, Nina Teixeira Fonsêca, Jessica Julioti Urbano, Newton Santos de Faria Júnior, Glauber Sá Brandão, Valeria Cavalcante, Acary Souza Bulle Oliveira, Luis V.F. Oliveira
(Rehabilitation Sciences Master’s and PhD Degree Programs, Nove de Julho University (UNINOVE), São Paulo, Brazil)
Med Sci Tech 2014; 55:77-85
Congenital Myasthenic syndrome (CMS) is characterized by abnormal neuromuscular transmission caused by mutations in genes encoding for proteins involved in the neuromuscular junction that lead to impaired signal transduction. The generalized muscle weakness also compromises the muscles of the oropharyngeal region, predisposing an individual to obstruction of the upper airways, especially during sleep. The aim of this study is to describe the clinical profile, pulmonary function, sleep architecture, and quality of life of 2 siblings with CMS.
Case Report: Patient 1, a 52-year-old, Caucasian woman, was diagnosed with CMS at 5 years of age. Her initial symptoms were ptosis, hypotonia, generalized muscle weakness, and difficulty feeding, sucking, and swallowing. The patient underwent 2 thymectomy procedures and 2 hospitalizations due to deterioration of her clinical condition but did not require invasive mechanical ventilation. The patient remained active despite moderate physical limitations. Patient 2, a 62-year-old Caucasian man, was diagnosed with CMS at 12 years of age with the same initial symptoms as his sister. The patient underwent a thymectomy and 4 admissions as a consequence of the disease, requiring invasive ventilatory support in the last 2 years. He maintained an active life with considerable physical limitations due to generalized muscle weakness.
Conclusions: We observed that patients with CMS have impaired pulmonary function, reduced maximal ventilatory pressures, and changes in sleep architecture that are directly correlated with disease progression.
Keywords: Myasthenic Syndromes, Congenital, Quality of Life, Respiratory Function Tests, Sleep apnea, obstructive, Sleep Disorders