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
N1 - Copyright © 2014 Elsevier Inc. All rights reserved.
PY - 2014/5
Y1 - 2014/5
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.
AB - 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.
KW - Adult
KW - Enzyme Replacement Therapy
KW - Female
KW - Follow-Up Studies
KW - Glycogen Storage Disease Type II
KW - Humans
KW - Male
KW - Middle Aged
KW - Motor Skills
KW - Muscle Strength
KW - Muscle, Skeletal
KW - alpha-Glucosidases
U2 - 10.1016/j.ymgme.2014.02.015
DO - 10.1016/j.ymgme.2014.02.015
M3 - Journal article
C2 - 24685124
SN - 1096-7192
VL - 112
SP - 40
EP - 43
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1
ER -