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Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22.

Respiratory pattern in a FSHD pediatric population.

Author information

1
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy. Electronic address: federica_trucco@yahoo.it.
2
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
3
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
4
Center of Myology and Neurodegenerative Disorders, Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy; Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
5
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected by FSHD with onset before 18 years. Spirometry results were correlated with motor involvement and compared to aged matched group of Becker patients. Of note FSHD patients present a peculiar pattern characterized by a flat shape in flow-volume loop. Respiratory volumes correlate with clinical severity and expiratory phase is specifically affected in comparison to other muscular dystrophies.

PMID:
27692152
DOI:
10.1016/j.rmed.2016.08.014
[Indexed for MEDLINE]
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