Screening for late-onset Pompe disease in Finland

Palmio, Johanna; Auranen, Mari; Kiuru-Enari, Sari; Löfberg, Mervi; Bodamer, Olaf A.; Udd, Bjarne

doi:10.1016/j.nmd.2014.06.438

Cited by 26 publications

(16 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The low incidence of LOPD in Finland reflects its relatively genetically isolated population 40. 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: 81%

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

2019

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 81%

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

2019

View full text Add to dashboard Cite

show abstract

“…Screening for PD 1 in high risk populations using DBS 3 was already performed in some European populations (Table 2) both in neuromuscular and respiratory units [4][5][6][7][8][9][10][11]. Apart from one study that included only patients with asymptomatic or minimally symptomatic hyperCKemia (mild non-specific myalgia or mild fatigue) [4], the other cohorts included also cases of proximal weakness without a definitive diagnosis.…”

Section: Pdmentioning

confidence: 99%

“…Apart from one study that included only patients with asymptomatic or minimally symptomatic hyperCKemia (mild non-specific myalgia or mild fatigue) [4], the other cohorts included also cases of proximal weakness without a definitive diagnosis. In three studies, patients with myopathy and unspecific muscle biopsy [6,8,9], and in one, patients with myopathic pattern in EMG [9], were also included irrespective of clinical presentation. The number of patients included varied from 82 in the western Sweden study to 3076 patients in the German and Britain cohorts, in a total of 4905 patients.…”

Section: Pdmentioning

confidence: 99%

Screening for Pompe disease in a Portuguese high risk population

D’Almeida

Conceição

Fineza

et al. 2017

Neuromuscular Disorders

View full text Add to dashboard Cite

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 difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.

show abstract

“…Эффективность скрининга DBS была показана у новорожденных, а также в других целенаправленных исследованиях c привлечением небольших групп па-циентов с болезнью Помпе (табл. 2) [6][7][8][9][10][11][12]. У всех 74 пациентов, у которых был впервые диагностирован гликогеноз II типа, выявлены ключевые клинические признаки БППН (см.…”

Section: Discussionunclassified

“…Главным результатом нашего исследования является вывод о том, что бо-лезнь Помпе встречается у 2,4 % взрослых пациентов с СПКМ и / или гиперКК неуточненной этиологии. Полученный результат согласуется с данными менее масштабных исследований в которых общая распро-страненность гликогеноза II типа составляла 2,5 % [6][7][8][9][10][11][12][13]. Несмотря на использование одинаковых флуорометрических методов, во всех 8 скрининговых исследованиях DBS имелись незначительные расхо-ждения в распространенности рассматриваемого ор-фанного заболевания, что может быть связано с ха-рактерной для конкретной страны частотой его возникновения.…”

Section: Discussionunclassified