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Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.
Mol Genet Metab Rep 2015; 5:67-71MG

Abstract

BACKGROUND

Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in infants. Despite the large number of studies describing the effects of physical training in juvenile and adult late onset Pompe disease (LOPD). There are very few reports that analyze the benefits of respiratory muscle rehabilitation or training.

METHODS

The effectiveness of respiratory muscle training was investigated using a specific appliance with adjustable resistance (Threshold). The primary endpoint was effect on respiratory muscular strength by measurements of MIP and MEP. Eight late-onset Pompe patients (aged 13 to 58 years; 4 female, 4 male) with respiratory muscle deficiency on functional respiratory tests were studied. All patients received ERT at the dosage of 20 mg/kg/every 2 weeks and underwent training with Threshold at specified pressures for 24 months.

RESULTS

A significant increase in MIP was observed during the follow-up of 24 month: 39.6 cm H2O (+ 25.0%) at month 3; 39.5 cm H2O (+ 24.9%) at month 6; 39.1 cm H2O (+ 23.7%) at month 9; 37.3 cm H2O (+ 18.2%) at month 12; and 37.3 cm H2O (+ 17.8%) at month 24. Median MEP values also showed a significant increase during the first 9 months: 29.8 cm H2O, (+ 14.3%) at month 3; 31.0 cm H2O (+ 18.6) at month 6; and 29.5 cm H2O (+ 12.9) at month 9. MEP was then shown to be decreased at months 12 and 24; median MEP was 27.2 cm H2O (+ 4.3%) at 12 months and 26.6 cm H2O (+ 1.9%) at 24 months. The FVC remain stable throughout the study.

CONCLUSION

An increase in respiratory muscular strength was demonstrated with Threshold training when used in combination with ERT.

Authors+Show Affiliations

Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.Rare Diseases Regional Centre, University Hospital "S. Maria della Misericordia", Udine, Italy.Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28649546

Citation

Jevnikar, Mitja, et al. "Respiratory Muscle Training With Enzyme Replacement Therapy Improves Muscle Strength in Late - Onset Pompe Disease." Molecular Genetics and Metabolism Reports, vol. 5, 2015, pp. 67-71.
Jevnikar M, Kodric M, Cantarutti F, et al. Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease. Mol Genet Metab Rep. 2015;5:67-71.
Jevnikar, M., Kodric, M., Cantarutti, F., Cifaldi, R., Longo, C., Della Porta, R., ... Confalonieri, M. (2015). Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease. Molecular Genetics and Metabolism Reports, 5, pp. 67-71. doi:10.1016/j.ymgmr.2015.09.007.
Jevnikar M, et al. Respiratory Muscle Training With Enzyme Replacement Therapy Improves Muscle Strength in Late - Onset Pompe Disease. Mol Genet Metab Rep. 2015;5:67-71. PubMed PMID: 28649546.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease. AU - Jevnikar,Mitja, AU - Kodric,Metka, AU - Cantarutti,Fabiana, AU - Cifaldi,Rossella, AU - Longo,Cinzia, AU - Della Porta,Rossana, AU - Bembi,Bruno, AU - Confalonieri,Marco, Y1 - 2015/10/29/ PY - 2015/07/25/received PY - 2015/09/30/revised PY - 2015/09/30/accepted PY - 2017/6/27/entrez PY - 2015/10/29/pubmed PY - 2015/10/29/medline KW - Enzyme replacement therapy KW - Late-onset type II glycogenosis KW - Muscle training KW - Pompe disease KW - Respiratory muscles SP - 67 EP - 71 JF - Molecular genetics and metabolism reports JO - Mol Genet Metab Rep VL - 5 N2 - BACKGROUND: Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in infants. Despite the large number of studies describing the effects of physical training in juvenile and adult late onset Pompe disease (LOPD). There are very few reports that analyze the benefits of respiratory muscle rehabilitation or training. METHODS: The effectiveness of respiratory muscle training was investigated using a specific appliance with adjustable resistance (Threshold). The primary endpoint was effect on respiratory muscular strength by measurements of MIP and MEP. Eight late-onset Pompe patients (aged 13 to 58 years; 4 female, 4 male) with respiratory muscle deficiency on functional respiratory tests were studied. All patients received ERT at the dosage of 20 mg/kg/every 2 weeks and underwent training with Threshold at specified pressures for 24 months. RESULTS: A significant increase in MIP was observed during the follow-up of 24 month: 39.6 cm H2O (+ 25.0%) at month 3; 39.5 cm H2O (+ 24.9%) at month 6; 39.1 cm H2O (+ 23.7%) at month 9; 37.3 cm H2O (+ 18.2%) at month 12; and 37.3 cm H2O (+ 17.8%) at month 24. Median MEP values also showed a significant increase during the first 9 months: 29.8 cm H2O, (+ 14.3%) at month 3; 31.0 cm H2O (+ 18.6) at month 6; and 29.5 cm H2O (+ 12.9) at month 9. MEP was then shown to be decreased at months 12 and 24; median MEP was 27.2 cm H2O (+ 4.3%) at 12 months and 26.6 cm H2O (+ 1.9%) at 24 months. The FVC remain stable throughout the study. CONCLUSION: An increase in respiratory muscular strength was demonstrated with Threshold training when used in combination with ERT. SN - 2214-4269 UR - https://www.unboundmedicine.com/medline/citation/28649546/Respiratory_muscle_training_with_enzyme_replacement_therapy_improves_muscle_strength_in_late___onset_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S2214-4269(15)30035-5 DB - PRIME DP - Unbound Medicine ER -