Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

L. T. Schreuder, M. W. Nijhuis-van der Sanden, A. de Hair, G. Peters, S. Wortmann, L. A. Bok, Eva Morava-Kozicz

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Albuterol, a selective beta-adrenergic agonist, has been used experimentally in combination with exercise therapy in a few inherited neuromuscular disorders to increase muscle strength and muscle volume . We report on a 9-year-old boy with central core disease and mitochondrial dysfunction due to compound heterozygous RYR1 mutations receiving albuterol treatment for 1 year. Throughout the period of albuterol administration, the patient underwent an aerobic exercise regime of training sessions three times a week that lasted 20 min each. No side effects of albuterol use were seen. Significant clinical progress, including self care, sitting up, raising arms above the shoulders, independent feeding, and better speech and writing were observed compared with minimal development of these abilities in the previous years on physiotherapy. Improved forced expiratory volume in 1 s (FEV1) score was detected and increased muscle strength was noted: progress was measured using various functional tests and assessment scales. The only complication observed was a mild progression of the joint contractures, possibly due to an unbalance between the flexor and extensor musculature. In general, in this pilot study in a complex case of metabolic myopathy our patient has shown promising results following albuterol treatment and aerobic exercise therapy.

Original languageEnglish (US)
JournalJournal of Inherited Metabolic Disease
Volume33 Suppl 3
StatePublished - Dec 1 2010
Externally publishedYes

Fingerprint

Central Core Myopathy
Albuterol
Exercise Therapy
Muscle Strength
Exercise
Adrenergic beta-Agonists
Aptitude
Forced Expiratory Volume
Contracture
Muscular Diseases
Self Care
Arm
Joints
Muscles
Mutation
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Schreuder, L. T., Nijhuis-van der Sanden, M. W., de Hair, A., Peters, G., Wortmann, S., Bok, L. A., & Morava-Kozicz, E. (2010). Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. Journal of Inherited Metabolic Disease, 33 Suppl 3.

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. / Schreuder, L. T.; Nijhuis-van der Sanden, M. W.; de Hair, A.; Peters, G.; Wortmann, S.; Bok, L. A.; Morava-Kozicz, Eva.

In: Journal of Inherited Metabolic Disease, Vol. 33 Suppl 3, 01.12.2010.

Research output: Contribution to journalArticle

Schreuder, LT, Nijhuis-van der Sanden, MW, de Hair, A, Peters, G, Wortmann, S, Bok, LA & Morava-Kozicz, E 2010, 'Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.', Journal of Inherited Metabolic Disease, vol. 33 Suppl 3.
Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA et al. Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. Journal of Inherited Metabolic Disease. 2010 Dec 1;33 Suppl 3.
Schreuder, L. T. ; Nijhuis-van der Sanden, M. W. ; de Hair, A. ; Peters, G. ; Wortmann, S. ; Bok, L. A. ; Morava-Kozicz, Eva. / Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. In: Journal of Inherited Metabolic Disease. 2010 ; Vol. 33 Suppl 3.
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