Screening for late-onset Pompe disease in western Denmark

Hansen, Julie Schjødtz; Pedersen, Emil; Garcı́a-Dorado, David; Bach, Flemming W.; Vilholm, Ole Jakob; Weitemeyer, L; Nielsen, K R; Schlesinger, F E; Preisler, Nicolai; Vissing, John; Andersen, Henning

doi:10.1111/ane.12811

Cited by 10 publications

(15 citation statements)

References 20 publications

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“…The studies which do not suggest that LOPD is underdiagnosed in west Sweden,42 west Denmark,43 French-speaking Belgium,47 as well as the present study, may also be compatible with the low prevalence of LOPD in these regions owing to the different ethnic stratification of these patients 47…”

Section: Discussionsupporting

confidence: 87%

“…The non-participating patients were of a similar age and gender breakdown as the participating patients. The level of non-participation in the present study was similar to that in two Danish studies; in the first study,12 three instances of LOPD were discovered, whereas the second43 was negative.…”

Section: Discussionsupporting

confidence: 86%

“…Before initiating enzyme replacement therapy, confirmation through both enzymatic and genetic testing should be performed 54. A negative DBS assay does not require further genetic analysis 43. However, an equivocal DBS assay requires confirmation from a second DBS assay to exclude inappropriate collection and shipping of the DBS before undertaking genetic analysis 43 47…”

Section: Discussionmentioning

confidence: 99%

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Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

2019

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AimsAs of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.MethodsSix hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004–2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD.ResultsA total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm.ConclusionsThe study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

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Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

2019

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“…In our study, the prevalence of adult Pompe disease is 1.6% in patients with unclassi ed axial or limb-girdle muscle weakness/ hyperCKemia/ respiratory insu ciency. This nding is slightly lower compared with previous published studies in other populations, with a combined prevalence of 2.4% (Table 3) [8][9][10][11][12][13][14][15]. Although it was reported that there is a higher prevalence of Pompe disease in Taiwan, the patients with LOPD in Taiwan often showed onset of symptoms in their second decade of life with rapid disease progression [17,21].…”

Section: Discussioncontrasting

confidence: 54%

Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

Jiao¹,

Dong²,

Luo³

et al. 2021

Preprint

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Backgroud: Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficulty. A multicenter observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in high-risk population, using dried blood spot (DBS) as a main screening tool.Methods: 20 Chinese neuromuscular centers were involved in the early LOPD screening study. Inclusion criteria were: (1) age ≥1 years, (2) either one of a) persistent hyperCKemia; or b) muscle weakness of axial and/or limb-girdle muscles; or c) unexplained restrictive respiratory insufficiency. Enzymatic activity of acid α-glucosidase (GAA) was measured on DBS by tandem mass spectrometry (MS/MS) assay. For the final diagnosis genotype was assessed by next-generation sequencing.Result: In a 9-month period, we studied 492 cases: 26 positive samples (5.3%) were detected by DBS screening. Molecular studies finally confirmed LOPD diagnosis in 8 cases (1.6%). The GAA activities in individuals bearing pseudodeficiency alleles were well separated from those in LOPD patients by MS/MS assay. The median interval from the onset of symptoms to diagnosis was 5 years. Besides axial/proximal muscle weakness, all patients showed respiratory insufficiency with a mean forced vital capacity of predicted of 48%. The level of creatine kinase ranged from normal to no more than 5-fold of upper normal limit. LOPD with isolated hyperCKemia was not identified.Conclusions: This study confirms that DBS test is a reliable method for screening for LOPD. Respiratory insufficiency is earlier and more severe among Chinese LOPD patients. LOPD presented with paucisymptomatic hyperCKemia. Therefore, a prompt diagnosis is critical to prognosis.

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“…Involvement of the peripheral nerves may lead to polyneuropathy. Only few patients with LOPD may have normal GAA activity [72]. LOPD is usually less progressive than EOPD if untreated.…”

Section: Lopdmentioning

confidence: 99%

Update Review about Metabolic Myopathies

Finsterer

2020

Life

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The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during exercise. Though limb and respiratory muscles are most frequently affected, facial, extra-ocular, and axial muscles may be occasionally also involved. Age at onset and prognosis vary considerably. There are multiple disease mechanisms and the pathophysiology is complex. Genes most recently related to metabolic myopathy include PGM1, GYG1, RBCK1, VMA21, MTO1, KARS, and ISCA2. The number of metabolic myopathies is steadily increasing. There is limited evidence from the literature that could guide diagnosis and treatment of metabolic myopathies. Treatment is limited to mainly non-invasive or invasive symptomatic measures. In conclusion, the field of metabolic myopathies is evolving with the more widespread availability and application of next generation sequencing technologies worldwide. This will broaden the knowledge about pathophysiology and putative therapeutic strategies for this group of neuromuscular disorders.

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Screening for late-onset Pompe disease in western Denmark

Abstract: None of the screened patients had a reduced activity of the enzyme alpha-glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.

Cited by 10 publications

References 20 publications

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

Update Review about Metabolic Myopathies

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