title: Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.
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.
authors.affiliation: Departments of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: L T W
authors.initials: LT
authors.lastname: Schreuder
authors.forename: M W G
authors.initials: MW
authors.lastname: Nijhuis-van der Sanden
authors.forename: A
authors.initials: A
authors.lastname: de Hair
authors.forename: G
authors.initials: G
authors.lastname: Peters
authors.forename: S
authors.initials: S
authors.lastname: Wortmann
authors.forename: L A
authors.initials: LA
authors.lastname: Bok
authors.forename: E
authors.initials: E
authors.lastname: Morava
mesh_terms: D000203:Activities of Daily Living; D058666:Adrenergic beta-2 Receptor Agonists / Q000009:adverse effects / Q000627:therapeutic use*; D000420:Albuterol / Q000009:adverse effects / Q000627:therapeutic use*; D002648:Child; D003131:Combined Modality Therapy; D005081:Exercise Therapy; D005541:Forced Expiratory Volume; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008168:Lung / Q000187:drug effects / Q000503:physiopathology; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D053580:Muscle Strength / Q000187:drug effects; D009154:Mutation; D020512:Myopathy, Central Core / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D020127:Recovery of Function; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D058666:Adrenergic beta-2 Receptor Agonists; D019837:Ryanodine Receptor Calcium Release Channel; D000420:Albuterol