Abstract
Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor.
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Selected References
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- Chan C. K., Mohsenin V., Loke J., Virgulto J., Sipski M. L., Ferranti R. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest. 1987 Apr;91(4):567–570. doi: 10.1378/chest.91.4.567. [DOI] [PubMed] [Google Scholar]
- Davis J., Goldman M., Loh L., Casson M. Diaphragm function and alveolar hypoventilation. Q J Med. 1976 Jan;45(177):87–100. [PubMed] [Google Scholar]
- Dyck P. J., Lambert E. H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 1968 Jun;18(6):603–618. doi: 10.1001/archneur.1968.00470360025002. [DOI] [PubMed] [Google Scholar]
- Mier-Jedrzejowicz A., Brophy C., Moxham J., Green M. Assessment of diaphragm weakness. Am Rev Respir Dis. 1988 Apr;137(4):877–883. doi: 10.1164/ajrccm/137.4.877. [DOI] [PubMed] [Google Scholar]
- Mier A., Brophy C., Moxham J., Green M. Phrenic nerve stimulation in normal subjects and in patients with diaphragmatic weakness. Thorax. 1987 Nov;42(11):885–888. doi: 10.1136/thx.42.11.885. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ROBIN E. D., WHALEY R. D., CRUMP C. H., TRAVIS D. M. Alveolar gas tensions, pulmonary ventilation and blood pH during physiologic sleep in normal subjects. J Clin Invest. 1958 Jul;37(7):981–989. doi: 10.1172/JCI103694. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wilson S. H., Cooke N. T., Edwards R. H., Spiro S. G. Predicted normal values for maximal respiratory pressures in caucasian adults and children. Thorax. 1984 Jul;39(7):535–538. doi: 10.1136/thx.39.7.535. [DOI] [PMC free article] [PubMed] [Google Scholar]
