W Goh, SL Lee, A Yung, WC Chow, V Wong

Abstract

Duchenne muscular dystrophy (DMD) is one of the major phenotype of dystrophinopathy. In typical cases of DMD, the strength of the lower limbs gradually deteriorate and majority become wheelchair bound by 12 years old. Weakness of respiratory muscles begin with decreasing functional ability and would die of respiratory failure or superimposed chest infection at late teens. Pulmonary rehabilitation had been reported to improve quality of life and prolonged life span in this group of patients. We studied respiratory function of 13 wheelchair bound DMD patients and assessed their attitude towards assisted ventilation. All the patients were found to have restrictive type of respiratory function with reduced peak flow rate. One patient was found to have type 2 respiratory failure. Assisted nocturnal ventilation via facial mask (Bi-PAP) was prescribed and his blood gases returned to normal during both day and night. His quality of life was improved. Despite the physical limitation in this group of patients, all of them showed willingness to use respiratory support to improve their respiratory function.