Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease—a long-term follow-up

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 -