Duchenne-type muscular dystrophy (DMD) is a disease characterized by progressive loss of muscle strength, eventually resulting in loss of ambulation, loss of respiratory muscle strength, and death from respiratory insufficiency. The majority of patients develop cardiomyopathy. DMD is an X-linked recessive trait that occurs almost exclusively in boys. The incidence of DMD is approximately 1:3,000 male births and is caused by mutation of the dystrophin gene. Clinical diagnosis is made after consideration of history, physical findings, and elevated serum creatine kinase level. Diagnosis is confirmed by finding an abnormality in the dystrophin gene by mutation analysis of blood leukocyte DNA. If DNA analysis is normal (as is the case in 1/3 of patients), diagnosis should be confirmed by finding absent or abnormal dystrophin using immunohistology or protein analysis of muscle tissue.
Although respiratory disease in DMD is its major cause of morbidity and mortality, there is inadequate awareness of its treatable nature. Recent advances in the respiratory care of the DMD patient have improved the outlook for these patients, and many caregivers have changed from a traditional non-interventional approach to a more aggressive, supportive approach. Despite the availability of new technologies to assist patients with DMD, many families do not receive sufficient information regarding their options in diagnosis and management of respiratory insufficiency.