Respiratory muscle dysfunction in hereditary motor sensory neuropathy, type I

Pulmonary function tests were performed on ten patients who were shown to have hereditary motor sensory neuropathy, type I. Mean values for spirometry, static lung volumes, and diffusion capacity were all greater than 80% of the predicted normal values for the group. In contrast, both inspiratory and expiratory muscle testing showed substantial reductions in function for the group. These abnormalities have not previously been reported, and they may be important in the management of these patients and in patients with other neuromuscular diseases.