Abstract
Aim
To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages
than ever recognized.
Subjects and methods
This retrospective study examined nocturnal hypercapnia in six young Becker muscular
dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced
expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow
(PCF), average PCO2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed.
Results
In five BMD patients, including three who were still ambulant, nocturnal average PCO2 was elevated to >45 mmHg at 12–31 years of age. Noninvasive positive pressure ventilation
was initiated in four patients. Gradual declines in FVC% and PEF% were evident in
one BMD patient with exon 3–7 deletion, whereas these functions did not change in
the remaining BMD patients. PCF, FEV1%, and LVEF were less informative for the assessment
of respiratory function in this patient series.
Conclusion
Sleep hypercapnia was present in certain BMD patients, which was unexpected from the
routine pulmonary function tests. Individualized assessment of nocturnal PCO2, partly based on the deletion types, should be further explored in the clinical practice
of BMD patients.
Keywords
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Article info
Publication history
Published online: March 08, 2018
Accepted:
February 21,
2018
Received in revised form:
February 15,
2018
Received:
November 14,
2017
Identification
Copyright
© 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
