Síndrome de apnea del sueño asociado a miopatía estructural congénita

INTRODUCTION: Without doubts, the sleep disorders are source of negative manifestations in the affected persons and among the sleep disorders the more studied are the sleep apnea syndromes and therefore their repercussion in affected people is enough known. Among the diseases that may be causes of respiratory problems during sleep are those that affect the neuromuscular system and one of the diagnostic possibilities is the group of myopathies. In these diseases, the breathing disorders during sleep are frequent; however, these diseases don´t have high prevalence in the population. The congenital myopathies are considered as rare diseases. CLINICAL CASE: Here are described the clinical manifestations, the results of the tests and the clinical evolution of a child with only two years, which was diagnosed a sleep apnea syndrome associated to congenital structural polymyopathy. CONCLUSIONS: Always should be considered the possibility of association of neuromuscular disorders and especially congenital myopathies, in patients with sleep apnea syndrome, independently of the difficult in make the diagnostic and infrequent presentation. Besides, are remarkable some difficulties in the management and definitive diagnostic in cases with congenital myopathies, principally in development countries.