Muscle fiber‐type distribution, fiber‐type‐specific damage, and the Pompe disease phenotype

Berg, Linda E.M. van den; Drost, Maarten R.; Schaart, Gert; Laat, Joost de; Doorn, Pieter A. van; Ploeg, Ans T. van der; Reuser, Arnold

doi:10.1007/s10545-012-9541-7

Cited by 19 publications

(12 citation statements)

References 34 publications

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“…ii) ACE may influence muscle metabolic efficiency, since an excess of II genotype was observed in elite mountaineers, and likely related to increase in type I/endurance muscle fibres [ 51 ]. The unfavourable prognostic profile of patients with the DD genotype and thus with a relative predominance of type 2 muscle fibres is in full agreement with the observation by van den Berg el at [ 52 ], that “among non-classic patients…those with early onset of symptoms tend to have more type 2 muscle fibers”.…”

Section: Discussionsupporting

confidence: 88%

Genotype-phenotype correlation in Pompe disease, a step forward

Filippi

Saeidi

Ravaglia

et al. 2014

Orphanet J Rare Dis

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BackgroundPompe’s disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.MethodsFor a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walton score, 6-Minute Walking Test, Vital Capacity, and Creatine Kinase. DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPARα genes).We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.ResultsWe have been able to identify four subgroups of patients completely homogeneous for their genotype, and two groups homogeneous as far as the second mutation is defined “very severe” or “potentially less severe”. When disease free life was studied we observed a high significant difference between groups. The DD genotype in the ACE gene and the XX genotype in the ACTN3 gene were significantly associated to an earlier age of onset of the disease. The ACE DD genotype was also associated to the presence of muscle pain.ConclusionsWe demonstrate that ACE and ACTN3 polymorphisms are genetic factors able to modulate the clinical phenotype of patients affected with Pompe disease.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0102-z) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 88%

Genotype-phenotype correlation in Pompe disease, a step forward

Filippi

Saeidi

Ravaglia

et al. 2014

Orphanet J Rare Dis

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“…Respiratory impairment can occur due to respiratory muscle hypotrophy associated to the involvement of the spinal moto neurons, in particular the phrenic moto neuron. As a consequence, contributes to a more pronounced diaphragmatic failure [34] [46] [48] [49], aggravating the thoracic cage dynamic kyphoscoliosis associated frequently to the Pompe phenotype which progressively decreases lung capacity [50]. The pathophysiology of respiratory insufficiency in neuromuscular diseases also includes alterations in central respiratory control, alveolar hypoventilation, paradoxical movement of the abdominal muscles, sleep apnea, atelectasis, hyper responsiveness of airways and recurrent pneumonia, and most importantly an abnormal and ineffectiveness of cough [51].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

Thomazinho¹,

Pelissari²,

Duarte³

et al. 2019

OJCD

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Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as How to cite this paper:

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“…A decrease in muscle contraction speed could be associated with greater impairment of type II muscle fibers (fast twitch muscles) which are prevalent in IPD patients ≤ 17 months of age in both genders [25] [26]. However it is still unclear whether this fiber distribution would be physiological, due to the maturation process and differentiation of muscle fibers, or related to IPD.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore less glycogen clearance in type II muscles fibers compared to Type I fibers through ERT in the Pompe disease mouse model has been notice [27]. Whether there is a predominance of involvement among different types of muscle fibers in the pathophysiology of the disease is still unclear [9] [26].…”

Section: Discussionmentioning

confidence: 99%

Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Thomazinho¹,

Scalco²,

Oliveira³

et al. 2017

OJCD

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After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker-glucose tetrasaccharide (Glc 4 )-was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc 4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc 4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.

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Muscle fiber‐type distribution, fiber‐type‐specific damage, and the Pompe disease phenotype

Cited by 19 publications

References 34 publications

Genotype-phenotype correlation in Pompe disease, a step forward

Genotype-phenotype correlation in Pompe disease, a step forward

Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

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