Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1984 May;47(5):549–552. doi: 10.1136/jnnp.47.5.549

Respiratory failure as initial symptom of acid maltase deficiency.

R W Keunen, P C Lambregts, A A Op de Coul, E M Joosten
PMCID: PMC1027835  PMID: 6429285

Abstract

Nine patients with adult onset acid maltase deficiency were seen at the Nijmegen University Hospital and the St Elisabeth Hospital, Tilburg , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.

Full text

PDF

Images in this article

551Image
on p.551

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bellamy D., Davis J. M., Hickey B. P., Benatar S. R., Clark T. J. A case of primary alveolar hypoventilation associated with mild proximal myopathy. Am Rev Respir Dis. 1975 Dec;112(6):867–873. doi: 10.1164/arrd.1975.112.6.867. [DOI] [PubMed] [Google Scholar]
  2. Hill R., Martin J., Hakim A. Acute respiratory failure in motor neuron disease. Arch Neurol. 1983 Jan;40(1):30–32. doi: 10.1001/archneur.1983.04050010050012. [DOI] [PubMed] [Google Scholar]
  3. Karpati G., Carpenter S., Eisen A., Aubé M., DiMauro S. The adult form of acid maltase (alpha-1,4-glucosidase) deficiency. Ann Neurol. 1977 Mar;1(3):276–280. doi: 10.1002/ana.410010314. [DOI] [PubMed] [Google Scholar]
  4. Kelemen J., Rice D. R., Bradley W. G., Munsat T. L., DiMauro S., Hogan E. L. Familial myoadenylate deaminase deficiency and exertional myalgia. Neurology. 1982 Aug;32(8):857–863. doi: 10.1212/wnl.32.8.857. [DOI] [PubMed] [Google Scholar]
  5. Lightman N. I., Schooley R. T. Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty. Chest. 1977 Aug;72(2):250–252. doi: 10.1378/chest.72.2.250. [DOI] [PubMed] [Google Scholar]
  6. Martin R. J., Sufit R. L., Ringel S. P., Hudgel D. W., Hill P. L. Respiratory improvement by muscle training in adult-onset acid maltase deficiency. Muscle Nerve. 1983 Mar-Apr;6(3):201–203. doi: 10.1002/mus.880060306. [DOI] [PubMed] [Google Scholar]
  7. Mellins R. B., Hays A. P., Gold A. P., Berdon W. E., Bowdler J. D. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics. 1974 Jan;53(1):33–40. [PubMed] [Google Scholar]
  8. Parhad I. M., Clark A. W., Barron K. D., Staunton S. B. Diaphragmatic paralysis in motor neuron disease. Report of two cases and a review of the literature. Neurology. 1978 Jan;28(1):18–22. doi: 10.1212/wnl.28.1.18. [DOI] [PubMed] [Google Scholar]
  9. Rosenow E. C., 3rd, Engel A. G. Acid maltase deficiency in adults presenting as respiratory failure. Am J Med. 1978 Mar;64(3):485–491. doi: 10.1016/0002-9343(78)90235-8. [DOI] [PubMed] [Google Scholar]
  10. Roussos C., Grassino A., Macklem P. T. Inspiratory muscle fatigue and acute respiratory failure. Can Med Assoc J. 1980 Jun 21;122(12):1375–1377. [PMC free article] [PubMed] [Google Scholar]
  11. Sivak E. D., Salanga V. D., Wilbourn A. J., Mitsumoto H., Golish J. Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis. Ann Neurol. 1981 Jun;9(6):613–615. doi: 10.1002/ana.410090618. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES