Document Detail

Cardiac and pulmonary investigations in Bethlem myopathy.
MedLine Citation:
PMID:  17101832     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement.
OBJECTIVE: To investigate cardiac and respiratory involvement in Bethlem myopathy.
DESIGN: Cross-sectional study.
SETTING: University hospitals. Patients Fifty patients with Bethlem myopathy from 26 families.
INTERVENTIONS: Cardiac examinations, including electrocardiography and echocardiography (n = 37) and pulmonary investigations (n = 43). Holter monitoring was performed in 16 patients.
MAIN OUTCOME MEASURES: Cardiac and respiratory abnormalities.
RESULTS: Several cardiac abnormalities were found that were considered unrelated to the muscular disorder. Seven (16%) of 43 patients had a forced vital capacity less than 70% of the predicted value. One of 2 patients with a forced vital capacity less than 50% was also receiving respiratory support. All patients with compromised respiratory function were still ambulatory, and we found no significant correlation between the severity of arm weakness and the severity of respiratory muscle involvement.
CONCLUSIONS: There is no evidence of cardiac involvement in Bethlem myopathy. Respiratory failure is part of the clinical spectrum and can occur in ambulatory patients.
Anneke J van der Kooi; Willem G de Voogt; Enrico Bertini; Luciano Merlini; F Beril Talim; Rabah Ben Yaou; Andoni Urtziberea; Marianne de Visser
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  63     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-11-14     Completed Date:  2006-12-12     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1617-21     Citation Subset:  AIM; IM    
Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Data Bank Information
Bank Name/Acc. No.:
OMIM/120220;  120240;  120250;  158810
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MeSH Terms
Cardiomyopathies / etiology*,  pathology
Cross-Sectional Studies
Echocardiography / methods
Electrocardiography / methods
Family Health
Middle Aged
Muscular Dystrophies / complications*,  pathology
Respiratory Function Tests
Respiratory Muscles / pathology,  physiopathology*
Grant Support
Comment In:
Arch Neurol. 2007 Jun;64(6):915; author reply 915-6   [PMID:  17562947 ]

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