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2017 | 77 | Suppl.1 |
Tytuł artykułu

Myofibrillar myopathies in Poland: Clinical, histopathological and genetic studies

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
INTRODUCTION: Myofibrillar myopathies (MFMs) are hereditary muscle diseases characterized by distinctive histopathology of myofibrillar disintegration and abnormal protein aggregation. Seven genes: DES, CRYAB, MYOT, FLNC, LDB3, BAG3, PLEC encoding proteins associated with Z disc are considered responsible for MFMs. However in about half of patients, the gene defect is still unknown. AIM(S): The aim of this study was to describe the clinical and histopathological features of genetically confirmed MFM. METHOD(S): 13 patients from 4 families with MFM were systematically identified and clinically studied. The families were not known to be related. In all suspected MFM patients (one proband from each family) disintegration of myofibrils and accumulation of degradation products into inclusions containing desmin were detected in muscle biopsy. However differentiation between MFM subtypes on the basis of clinical/ pathological phenotype alone was impossible. Therefore, subtype identification was performed using molecular studies. RESULTS: All patients presented with progressive muscle weakness with distal-proximal distribution in the lower limbs. CK was normal or slightly elevated. Finally three mutations were identified: two in DES: (Q348P) and (A357_E359del) and one in CRYAB (D109A). In two families with desminopathy caused by A357_E359del mutation cardiac arrhythmias was observed (paternal uncle with similar symptoms died due to cardiac arrhythmia). Dilated cardiomyopathy was confirmed by echocardiography in family with CRYAB D109A. In this family respiratory insufficiency as well as early cataract were diagnosed. CONCLUSIONS: Molecular identification of MFM is crucial for final diagnosis. The awareness of MFM type could be life-saving by means of appropriate treatment such as 1) inserting of a pacemaker in case of significant heart conduction defects and arrhythmia or 2) initiation of noninvasive ventilation in case of chronic respiratory failure.
Słowa kluczowe
Wydawca
-
Rocznik
Tom
77
Numer
Opis fizyczny
p.75-76
Twórcy
  • Department of Neurology, Medical University of Warsaw, Warsaw, Poland
autor
  • Department of Neurodegenerative Disorders, Mossakowski Medical Research Center Polish Academy of Sciences, Warsaw, Poland
autor
  • Department of Biochemistry, Nencki Institute of Experimental Biology Polish Academy of Sciences, Warsaw, Poland
autor
  • Department of Neurodegenerative Disorders, Mossakowski Medical Research Center Polish Academy of Sciences, Warsaw, Poland
autor
  • Faculty of Chemistry and Biological and Chemical Research Centre, University of Warsaw, Poland
autor
  • Department of Biochemistry, Nencki Institute of Experimental Biology Polish Academy of Sciences, Warsaw, Poland
  • Department of Biochemistry, Nencki Institute of Experimental Biology Polish Academy of Sciences, Warsaw, Poland
  • Department of Neurology, Medical University of Warsaw, Warsaw, Poland
autor
  • Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Bibliografia
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-e66b8576-3a9c-4313-9d7d-46c26cddbac7
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