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Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up.
Mol Genet Metab 2014; 112(1):40-3MG

Abstract

Pompe disease is a rare, inherited metabolic myopathy characterized by progressive weakness of the proximal limb and respiratory muscles. We report the findings from four patients with late-onset Pompe disease treated with α-glucosidase (Myozyme) for 2 (n=2) and 6 (n=2) years, and monitored with isokinetic dynamometry, 6-minute walking test (6MWT), and vital capacity. Patients were evaluated after 6, 12, 24, 36, 48, 60, and 72months. In two patients, muscle size estimated by MRI and DXA scanning was also performed prior to and following 6months of treatment. After 2years of α-glucosidase treatment, maximal isokinetic muscle strength increased by 11% (0%-50%) [median (range)] and 6MWT improved by 18% (2%-40%). In the two patients treated for 6years, the increase in muscle strength stabilized at 40% and 6MWT stabilized at 32%. The improvements primarily occurred during the first 6months of treatment. Interestingly, the weakest muscle groups seemed to benefit more than those less affected, and greater improvements occurred for flexor muscles compared to extensor muscles. Vital capacity did not improve on treatment.

Authors+Show Affiliations

Clinical Neurology Research Group, Department of Neurology, Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C., Denmark; Institute of Clinical Medicine, Aarhus University, Brendstrupgårdsvej 100, 8200 Aarhus N., Denmark. Electronic address: christer.andreassen@ki.au.dk.Clinical Neurology Research Group, Department of Neurology, Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C., Denmark. Electronic address: jschlytter@gmail.com.Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: john.vissing@regionh.dk.Clinical Neurology Research Group, Department of Neurology, Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C., Denmark. Electronic address: hennande@rm.dk.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24685124

Citation

Andreassen, Christer Swan, et al. "Effect of Enzyme Replacement Therapy On Isokinetic Strength for All Major Muscle Groups in Four Patients With Pompe Disease-a Long-term Follow-up." Molecular Genetics and Metabolism, vol. 112, no. 1, 2014, pp. 40-3.
Andreassen CS, Schlütter JM, Vissing J, et al. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. Mol Genet Metab. 2014;112(1):40-3.
Andreassen, C. S., Schlütter, J. M., Vissing, J., & Andersen, H. (2014). Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. Molecular Genetics and Metabolism, 112(1), pp. 40-3. doi:10.1016/j.ymgme.2014.02.015.
Andreassen CS, et al. Effect of Enzyme Replacement Therapy On Isokinetic Strength for All Major Muscle Groups in Four Patients With Pompe Disease-a Long-term Follow-up. Mol Genet Metab. 2014;112(1):40-3. PubMed PMID: 24685124.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. AU - Andreassen,Christer Swan, AU - Schlütter,Jacob Mørup, AU - Vissing,John, AU - Andersen,Henning, Y1 - 2014/03/05/ PY - 2014/02/18/received PY - 2014/02/19/accepted PY - 2014/4/2/entrez PY - 2014/4/2/pubmed PY - 2014/12/15/medline KW - Enzyme replacement therapy KW - Late-onset Pompe disease KW - Muscle strength KW - Muscle volume KW - Respiratory function KW - Walking capacity SP - 40 EP - 3 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 112 IS - 1 N2 - Pompe disease is a rare, inherited metabolic myopathy characterized by progressive weakness of the proximal limb and respiratory muscles. We report the findings from four patients with late-onset Pompe disease treated with α-glucosidase (Myozyme) for 2 (n=2) and 6 (n=2) years, and monitored with isokinetic dynamometry, 6-minute walking test (6MWT), and vital capacity. Patients were evaluated after 6, 12, 24, 36, 48, 60, and 72months. In two patients, muscle size estimated by MRI and DXA scanning was also performed prior to and following 6months of treatment. After 2years of α-glucosidase treatment, maximal isokinetic muscle strength increased by 11% (0%-50%) [median (range)] and 6MWT improved by 18% (2%-40%). In the two patients treated for 6years, the increase in muscle strength stabilized at 40% and 6MWT stabilized at 32%. The improvements primarily occurred during the first 6months of treatment. Interestingly, the weakest muscle groups seemed to benefit more than those less affected, and greater improvements occurred for flexor muscles compared to extensor muscles. Vital capacity did not improve on treatment. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/24685124/Effect_of_enzyme_replacement_therapy_on_isokinetic_strength_for_all_major_muscle_groups_in_four_patients_with_Pompe_disease_a_long_term_follow_up_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(14)00087-0 DB - PRIME DP - Unbound Medicine ER -