Respiratory pattern in a FSHD pediatric population.
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.
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy. Electronic address: federica_trucco@yahoo.it.
Federica
F
Trucco
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
Marina
M
Pedemonte
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
Chiara
C
Fiorillo
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
Paola
P
Tacchetti
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
Giacomo
G
Brisca
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.
Claudio
C
Bruno
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.
Carlo
C
Minetti
D000293:Adolescent; D000328:Adult; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D008124:Locomotion / Q000235:genetics; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D015995:Prevalence; D012129:Respiratory Function Tests / Q000379:methods*; D012131:Respiratory Insufficiency / Q000150:complications* / Q000628:therapy; D012720:Severity of Illness Index; D013147:Spirometry; D014797:Vital Capacity; D055815:Young Adult