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

Journal of inherited metabolic disease

Volumn 33 Suppl 3, Issue , 2010, Pages

  Schreuder, L T ^a   Nijhuis van der Sanden, M W ^b   de Hair, A ^b   Peters, G ^b   Wortmann, S ^b   Bok, L A ^b   Morava, E ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; RYANODINE RECEPTOR; SALBUTAMOL;

CASE REPORT; CHILD; CONVALESCENCE; DAILY LIFE ACTIVITY; DRUG EFFECTS; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HUMAN; KINESIOTHERAPY; LUNG; MALE; MITOCHONDRIAL DISEASES; MULTIMODALITY CANCER THERAPY; MUSCLE STRENGTH; MUTATION; MYOPATHY, CENTRAL CORE; PATHOPHYSIOLOGY; PHENOTYPE; TREATMENT OUTCOME;

ACTIVITIES OF DAILY LIVING; ADRENERGIC BETA-2 RECEPTOR AGONISTS; ALBUTEROL; CHILD; COMBINED MODALITY THERAPY; EXERCISE THERAPY; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LUNG; MALE; MITOCHONDRIAL DISEASES; MUSCLE STRENGTH; MUTATION; MYOPATHY, CENTRAL CORE; PHENOTYPE; RECOVERY OF FUNCTION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TREATMENT OUTCOME;

EID: 83455261681     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9085-7     Document Type: Article

References (23)

1. E Bäckman 1988 Methods for measurement of muscle function. Methodological aspects, reference values for children, and clinical applications Scand J Rehabil Med Suppl 20 9 95 3074485 Review Bäckman E (1988) Methods for measurement of muscle function. Methodological aspects, reference values for children, and clinical applications. Scand J Rehabil Med Suppl 20:9–95, Review
2. P Cejudo J Bautista T Montemayor 2005 Exercise training in mitochondrial myopathy: a randomized controlled trial Muscle Nerve 32 342 350 15962332 10.1002/mus.20368 Cejudo P, Bautista J, Montemayor T et al (2005) Exercise training in mitochondrial myopathy: a randomized controlled trial. Muscle Nerve 32:342–350
3. J Finsterer 2004 Mitochondriopathies Eur J Neurol 11 163 186 15009163 10.1046/j.1351-5101.2003.00728.x 1:STN:280:DC%2BD2c7hvFegsg%3D%3D Review Finsterer J (2004) Mitochondriopathies. Eur J Neurol 11:163–186, Review
4. IM Gommans MH Vlak A Haan de BG Engelen van 2002 Calcium regulation and muscle disease J Muscle Res Cell Motil 23 1 59 63 12363286 10.1023/A:1019984714528 1:CAS:528:DC%2BD38Xms1ektL0%3D Review Gommans IM, Vlak MH, de Haan A, van Engelen BG (2002) Calcium regulation and muscle disease. J Muscle Res Cell Motil 23(1):59–63, Review
5. M Hirano 2003 Pilot trial of albuterol in spinal muscular atrophy Curr Neurol Neurosci Rep 3 56 12507412 10.1007/s11910-003-0038-5 Hirano M (2003) Pilot trial of albuterol in spinal muscular atrophy. Curr Neurol Neurosci Rep 3:56
6. AM Huber BM Feldman RM Rennebohm 2004 Validation and clinical significance of the Childhood Myositis Assessment Scale for assessment of muscle function in the juvenile idiopathic inflammatory myopathies Arthritis Rheum 50 1595 1603 15146430 10.1002/art.20179 Huber AM, Feldman BM, Rennebohm RM et al (2004) Validation and clinical significance of the Childhood Myositis Assessment Scale for assessment of muscle function in the juvenile idiopathic inflammatory myopathies. Arthritis Rheum 50:1595–1603
7. AJ Janssen FJ Trijbels RC Sengers 2006 Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology Clin Chem 52 860 871 16543390 10.1373/clinchem.2005.062414 1:CAS:528:DC%2BD28XksVyrurY%3D Janssen AJ, Trijbels FJ, Sengers RC et al (2006) Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 52:860–871
8. TD Jeppesen M Schwartz DB Olsen 2006 Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy Brain 129 3402 3412 16815877 10.1093/brain/awl149 Jeppesen TD, Schwartz M, Olsen DB et al (2006) Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 129:3402–3412
9. AM Joseph H Pilegaard A Litvintsev 2006 Control of gene expression and mitochondrial biogenesis in the muscular adaptation to endurance exercise Essays Biochem 42 13 29 17144877 10.1042/bse0420013 1:CAS:528:DC%2BD2sXhvFSmtbg%3D Review Joseph AM, Pilegaard H, Litvintsev A et al (2006) Control of gene expression and mitochondrial biogenesis in the muscular adaptation to endurance exercise. Essays Biochem 42:13–29, Review
10. H Jungbluth 2007 Multi-minicore Disease. Orphanet J Rare Dis 2 31 10.1186/1750-1172-2-31 Review Jungbluth H (2007) Multi-minicore Disease Orphanet J Rare Dis 2:31, Review
11. M Kinali E Mercuri M Main 2002 Pilot trial of albuterol in spinal muscular atrophy Neurology 59 609 610 12196659 10.1212/WNL.59.4.609 1:CAS:528:DC%2BD38XntlSrtr8%3D Kinali M, Mercuri E, Main M et al (2002) Pilot trial of albuterol in spinal muscular atrophy. Neurology 59:609–610
12. JT Kissel MP McDermott JR Mendell 2001 Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy Neurology 57 1434 1440 11673585 10.1212/WNL.57.8.1434 1:CAS:528:DC%2BD3MXot1Sksrw%3D Kissel JT, McDermott MP, Mendell JR et al (2001) Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 57:1434–1440
13. JT Kissel MP McDermott R Natarajan 1998 Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group Neurology 50 1402 1406 9595995 10.1212/WNL.50.5.1402 1:CAS:528:DyaK1cXjsVSrtrw%3D Kissel JT, McDermott MP, Natarajan R et al (1998) Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology 50:1402–1406
14. J Loke DH MacLennan 1998 Malignant hyperthermia and central core disease: disorders of Ca2+ release channels Am J Med 104 5 470 486 9626031 10.1016/S0002-9343(98)00108-9 1:CAS:528:DyaK1cXktVSjur8%3D Review Loke J, MacLennan DH (1998) Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med 104(5):470–486, Review
15. S Messina L Hartley M Main 2004 Pilot trial of salbutamol in central core and multi-minicore diseases Neuropediatrics 35 262 266 15534757 10.1055/s-2004-821173 1:CAS:528:DC%2BD2cXhtFChurzL Messina S, Hartley L, Main M et al (2004) Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics 35:262–266
16. N Monnier I Marty J Faure 2008 Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores Hum Mutat 29 5 670 678 18253926 10.1002/humu.20696 1:CAS:528:DC%2BD1cXmsVOns7s%3D Monnier N, Marty I, Faure J et al (2008) Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 29(5):670–678
17. E Morava L Heuvel van den F Hol 2006 Mitochondrial disease criteria: diagnostic applications in children Neurology 67 1823 1826 17130416 10.1212/01.wnl.0000244435.27645.54 1:STN:280:DC%2BD28npt1yisQ%3D%3D Morava E, van den Heuvel L, Hol F et al (2006) Mitochondrial disease criteria: diagnostic applications in children. Neurology 67:1823–1826
18. C Phoenix AM Schaefer JL Elson 2006 A scale to monitor progression and treatment of mitochondrial disease in children Neuromuscul Disord 16 814 820 17123819 10.1016/j.nmd.2006.08.006 1:STN:280:DC%2BD28jit1Ojtg%3D%3D Phoenix C, Schaefer AM, Elson JL et al (2006) A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 16:814–820
19. OM Scott SA Hyde C Goddard 1982 Quantitation of muscle function in children: A prospective study in Duchenne muscular dystrophy Muscle Nerve 5 291 301 7099196 10.1002/mus.880050405 1:STN:280:DyaL383ksFCntg%3D%3D Scott OM, Hyde SA, Goddard C et al (1982) Quantitation of muscle function in children: A prospective study in Duchenne muscular dystrophy. Muscle Nerve 5:291–301
20. T Taivassalo JL Gardner RW Taylor 2006 Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions Brain 129 3391 3401 17085458 10.1093/brain/awl282 Taivassalo T, Gardner JL, Taylor RW et al (2006) Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 129:3391–3401
21. B Trutschnigg RD Kilgour J Reinglas 2008 Precision and reliability of strength (Jamar vs. Biodex handgrip) and body composition (dual-energy X-ray absorptiometry vs. bioimpedance analysis) measurements in advanced cancer patients Appl Physiol Nutr Metab 33 1232 1239 19088782 10.1139/H08-122 Trutschnigg B, Kilgour RD, Reinglas J et al (2008) Precision and reliability of strength (Jamar vs. Biodex handgrip) and body composition (dual-energy X-ray absorptiometry vs. bioimpedance analysis) measurements in advanced cancer patients. Appl Physiol Nutr Metab 33:1232–1239
22. SB Wortmann RJ Rodenburg A Jonckheere 2009 Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy Brain 132 136 146 19015156 10.1093/brain/awn296 Wortmann SB, Rodenburg RJ, Jonckheere A et al (2009) Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 132:136–146
23. KM Zhang P Hu SW Wang JJ Feher LD Wright AS Wechsler JA Spratt FN Briggs 1996 Salbutamol changes the molecular and mechanical properties of canine skeletal muscle J Physiol 496 Pt 1 211 220 8910209 1:CAS:528:DyaK28Xmt1Wls7w%3D Zhang KM, Hu P, Wang SW, Feher JJ, Wright LD, Wechsler AS, Spratt JA, Briggs FN (1996) Salbutamol changes the molecular and mechanical properties of canine skeletal muscle. J Physiol 496(Pt 1):211–220