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Table of Contents
LETTER TO THE EDITOR
Year : 2016  |  Volume : 19  |  Issue : 3  |  Page : 423-424
 

Functional capacity in a late-onset Pompe disease patient: Effect of enzyme replacement therapy and exercise training


1 First Department of Neurology, School of Medicine, Aiginition Hospital; Athletics Laboratory, School of Physical Education and Sport Science, National and Kapodistrian University of Athens, Athens, Greece
2 First Department of Neurology, School of Medicine, Aiginition Hospital, National and Kapodistrian University of Athens, Athens, Greece

Date of Submission19-Dec-2015
Date of Decision17-Jan-2016
Date of Acceptance07-Feb-2016
Date of Web Publication25-Jul-2016

Correspondence Address:
Gerasimos D Terzis
Athletics Laboratory, School of Physical Education and Sport Science, National and Kapodistrian University of Athens, 41 Ethnikis Antistassis Street, 172 37, Daphne, Athens
Greece
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.179980

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How to cite this article:
Krase AA, Papadimas GK, Terzis GD. Functional capacity in a late-onset Pompe disease patient: Effect of enzyme replacement therapy and exercise training. Ann Indian Acad Neurol 2016;19:423-4

How to cite this URL:
Krase AA, Papadimas GK, Terzis GD. Functional capacity in a late-onset Pompe disease patient: Effect of enzyme replacement therapy and exercise training. Ann Indian Acad Neurol [serial online] 2016 [cited 2019 Dec 14];19:423-4. Available from: http://www.annalsofian.org/text.asp?2016/19/3/423/179980


Sir,

Pompe disease is a rare inherited autosomal recessive disorder caused by the partial or total deficiency of acid α-glucosidase, resulting in lysosomal accumulation of glycogen. [1],[2] Since 2006 enzyme replacement therapy (ERT) with recombinant human α-glucosidase was introduced; this changed decisively the progress of the infantile form of the disease. [3] However, the results were only moderate for the late-onset form: Limited improvements or stabilization of the symptoms. Exercise training has been considered as a supportive treatment to compensate for the muscle dysfunction in Pompe patients receiving ERT, resulting in increases in muscular strength and 6 min walking ability. [4] However, it remains unknown whether exercise training-induced adaptations acquired with simultaneous ERT, are maintained after cessation of the ERT. In the current case report, muscular strength, forced vital capacity (FVC), 6 min walking distance, and body composition were measured in an ambulatory male late-onset Pompe disease (LOPD) patient before and after discontinuing ERT, who continuously performed exercise training. The patient was 45-year-old (IVS1-13 T > G and c. 2066-2070dup, α-glucosidase enzyme activity in fibroblasts 0.26 nmol/mg/min) and followed ERT (20 mg/kg, every 14 days) for 3 years and then decided to withdraw. Supervised exercise training under close supervision, 3 times/week, was initiated 2 years after initiation of ERT. Each training session started with 20-30 min of bicycling at 110-120 heart beats per minute, mild stretching of the major muscle groups and then resistance exercise for the major muscle groups for 3 sets × 10 repetitions with free weights, machines, fit balls, and soft straps, at approximately 50-75% of maximum strength. Muscular strength, FVC, 6 min walking distance, and body composition (dual-energy X-ray absorptiometry) were evaluated every year.

Maximal isometric strength was increased after 12 months of ERT and continued to increase for a year after the initiation of exercise training. Muscle strength decreased 1 year after withdrawing from ERT, whereas it was restored during the last 2 years of exercise per se [Figure 1]. FVC decreased during ERT per se, recovered with ERT + exercise and slightly decreased with exercise per se. Six minutes walking distance was increased during the first 12 months after initiation of ERT and remained unaltered thereafter. Only minimal alterations were observed in whole body, lean body mass, and bone mineral density.
Figure 1: Muscular strength changes over 6 years in one male late-onset Pompe disease patient under enzyme replacement therapy (enzyme replacement therapy, 24 months), enzyme replacement therapy and regular exercise training (enzyme replacement therapy + exercise, 12 months), and under exercise training per se (exercise, 36 months)

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The increase in muscle strength and 6 min walking distance with ERT per se or in combination with exercise training may be due to a mild degradation of glycogen from skeletal muscle. [5] A few months after termination of ERT our patient suffered from muscular pain although it was impossible to identify the origin of this pain. As a consequence, exercise training frequency and intensity were reduced for 6 months; only one or two training sessions were performed each week with 20-30% lower resistance, which may explain the reduction in muscular strength 1 year after withdrawal from ERT. Thereafter, muscle pain disappeared, and exercise training frequency and intensity returned to the previous level. The higher FVC was attained with the combination of ERT and exercise training. The current data suggest that the combination of moderate intensity resistance and aerobic exercise may sustain functional capacity and muscle strength in ambulatory LOPD patients after voluntary withdrawal from of ERT. Exercise training should be of moderate intensity to avoid possible detrimental effects of excessive loading, especially in patients with cardiac involvement along with myopathy.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Mellies U, Lofaso F. Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respir Med 2009;103:477-84.  Back to cited text no. 1
[PUBMED]    
2.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267-88.  Back to cited text no. 2
[PUBMED]    
3.
Merk T, Wibmer T, Schumann C, Krüger S. Glycogen storage disease type II (Pompe disease) - Influence of enzyme replacement therapy in adults. Eur J Neurol 2009;16:274-7.  Back to cited text no. 3
    
4.
Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab 2011;104:279-83.  Back to cited text no. 4
[PUBMED]    
5.
Nilsson MI, MacNeil LG, Kitaoka Y, Suri R, Young SP, Kaczor JJ, et al. Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease. Free Radic Biol Med 2015;87:98-112.  Back to cited text no. 5
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