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Depressed ventilatory response in oculocraniosomatic neuromuscular disease

From the Departments of Neurology and Medicine, University of Colorado Medical Center, Denver, Colorado.

Four patients with ptosis, external ophthalmoplegia, and ragged-red fibers on muscle biopsy were found to have decreased ventilatory responses to hypoxia and hypercapnia. Respiratory muscle weakness was not responsible for these findings since these responses were normal in muscle disease control patients. An altered metabolic state also can cause diminished ventilatory response, but overall oxygen consumption data in the ragged-red fiber patients were normal. The decreased ventilatory responses may be clinically significant because two of the ragged-red fiber patients had episodes suspicious of hypoventilation with poor response to hypoxia.

Dr. Carroll's address is Department of Neurology, University of Colorado Medical Center, 4200 E. Ninth Ave., Denver, CO 80220.

Dr. Weil is the recipient of an NIH Research Career Development Award.

This work was supported by PHS Grants HL 14985, NS05584-07, and by the Muscular Dystrophy Associations of America.

This paper was read in part at the twenty-seventh annual meeting of the American Academy of Neurology, Bal Harbour, Florida, May 1975.

Received for publication June 9, 1975.

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