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Časopis Neurology – Článok Late-onset pompe disease in slovakia – pitfalls in the diagnosis

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
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Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
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Téma: Original Works

Late-onset pompe disease in slovakia – pitfalls in the diagnosis

Peter Špalek1, Ivan Martinka1, Slávka Mattošová2, Iveta Mečiarová3, Ivana Urminská1, Miriam Sosková1, Ján Chandoga2

Introduction: Late-onset glycogen storage disease type II (GSDII)/Pompe disease is an inherited autosomal recessive metabolic disorder caused by a deficiency of lysosomal acid alfa-glucosidase (GAA) activity. Although GSDII is generally characterized by skeletal and respiratory muscle weakness and atrophy, resulting in functional disability and reduced life span, distinct phenotypic diversity is characteristic for late-onset GSDII too. The purpose of our presentation is to underline the difficulties in diagnosing late-onset GSDII. We report on five patients who were initially diagnosed with other diseases. Cases: 4 females and 1 male had their onset of GSDII at a mean age of 39.4 years (range 18-53). All patients had muscle weakness and muscle atrophy, 2 suffered from myalgias and 1 had muscle cramps. Each patient had increased blood creatine kinase (5.01-19.96 ukat/l) and myopathic pattern at needle EMG examination. Our 5 patients were initially misdiagnosed with limb-girdle muscular dystrophy, chronic polymyositis, facio-scapulo-humeral muscular dystrophy, myotonic dystrophy and hypothyroid myopathy. Average interval between the onset and correct GSDII diagnosis was 5.6 years (range 3-8). A muscle biopsy with histopathological findings of vacuolar myopathy due to lysosomal glycogen accumulation was an important step in the diagnosis of two patients. The diagnosis of late-onset GSDII was confirmed in all 5 patients through deficient GAA activity in lymphocytes and by mutational analysis of genomic DNA, isolated from peripheral blood leukocytes. All patients receive enzymatic replacement therapy (ERT). Conclusion: Misdiagnosis of GAA deficiency delays the recognition of late-onset Pompe disease. Late diagnosis in advanced stages of the disease may deprive the benefits of ERT. Therefore, early diagnosis of late-onset Pompe disease is of significant importance and the use of dried blood spots should be a routine procedural component of clinical practice.

late-onset Pompe disease, deficiency of lysosomal acid alfa-glucosidase, muscle weakness, phenotypic diversity, diagnostic pitfalls, dried blood spot, alfa- glucosidase activity testing in leukocytes, DNA mutation analysis
Neurológia 2014; 9 (3): 157-164

Ročník 2014  Témy časopisu Neurology 3 / 2014

Overview works

Petra Kovalská, Karel Šonka
Jan Krejsek

Original Works

Martin Kuliha1,2, Martin Roubec1, Eva Hurtíková1, Andrea Goldírová1,3, Roman Herzig4, Václav Procházka5, Tomáš Jonszta5, Jan Krajča5, Dan Czerný5, Tomáš Hrbáč6, David Otáhal6, Daniel Šaňák7, Michal Král7, Kateřina Langová8, David Školoudík1,2,3

Original Works

Peter Špalek1, Ivan Martinka1, Slávka Mattošová2, Iveta Mečiarová3, Ivana Urminská1, Miriam Sosková1, Ján Chandoga2

Case Studies

Ivan Martinka1, František Jurčaga1, Ján Grunt2, Ernest Marton3, Barbora Penxová1, Peter Špalek1
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The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
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Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné