The effects of inspiratory muscle training in ventilatory mechanics in patients with ataxia-telangiectasia

Abstract

The Ataxia-Telangiectasia (AT) is an autosomal recessive syndrome, with defects in DNA repair. The clinical manifestations are: progressive cerebellar ataxia, recurrent infections mainly sinopulmonary, skin abnormalities, telangiectasia, predisposition to malignancy, mainly leukemia and lymphoma, muscle weakness and aging. AT is classified as a neuromuscular disease due to the commitment of the central nervous system (CNS) and muscle-skeletal, which becomes more evident over two years old when the child starts walking and presents loss of balance and gait. The cause is a mutation in ATM gene (11q22), which contains 66 exons. Low IgA level with normal or low IgG level and poor response to polysaccharide antigens are found frequently. Cellular immunity can be normal or with low number of T lymphocytes CD4+ and CD8+. Patients also present radiosensitivity that predispose to a chromosome damage. Serum alphafetoprotein levels are increased in most patients with A-T and are useful in the diagnosis. The frequent pulmonary infections can cause a chronic lung disease, bronchiectasis, pulmonary fibrosis, respiratory failure and death. The respiratory physiotherapy is mandatory in therapeutic monitoring of these patients. The inspiratory muscle training (IMT) is indicated by the gradual loss of muscle strength that progresses to atrophy, especially of trunk and lower limbs. The muscles of breathing are skeletal muscle similar to peripherals, end up being affected because the progression of the disease, which causes a restrictive pattern characterized by the fall disproportionately the maximum voluntary ventilation (MVV) regarding vital capacity when the resistance airway is normal. This study aims to assess the effects of inspiratory muscle training in ventilatory mechanical in patients with Ataxia-Telangiectasia. (AU)