title: Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.
abstract: Respiratory insufficiency in facioscapulohumeral muscular dystrophy has rarely been studied. We compared two age- and sex-matched groups of 29 patients, with and without respiratory dysfunction. Tests in the 29 patients with respiratory dysfunction suggested predominant expiratory muscle dysfunction, leading to ineffective cough in 17 patients. Supine and upright vital capacities were not different (P = 0.76), suggesting absence of diaphragmatic dysfunction. By stepwise regression, only expiratory reserve volume correlated with the Walton and Gardner-Medwin score (R(2) = 0.503; P = 0.001). Compared to controls, patients with respiratory dysfunction had higher values for the Walton and Gardner-Medwin score (6.1 ± 1.9 vs. 3.2 ± 1.2; P <0.0001) and body mass index (26.9 ± 6.0 vs. 22.9 ± 4.0 kg/m(2); P = 0.003) and a smaller number of D4Z4 allele repeats (4.8 ± 1.6 vs. 5.7 ± 1.8; P = 0.05). Mechanical ventilation was required eventually in 20 patients, including 14 who were wheelchair bound. Three patients had acute respiratory failure requiring mechanical ventilation; 16 patients had poor airway clearance, including 10 with sleep apnea syndrome, responsible in 7 for chronic hypercapnia. Two patients presented isolated severe sleep apnea syndrome. Respiratory dysfunction in facioscapulohumeral muscular dystrophy is predominantly related to expiratory muscle weakness. Respiratory function and cough effectiveness should especially be monitored in patients with severe motor impairment and high body mass index.
authors.affiliation: EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Centro de Fisioterapia e Reabilitação, Hospital Universitário de Brasília, Universidade de Brasília, Brasilia, Brazil.
authors.forename: Dante Brasil
authors.initials: DB
authors.lastname: Santos
authors.affiliation: EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France.
authors.forename: Ghilas
authors.initials: G
authors.lastname: Boussaid
authors.affiliation: Institut de Myologie, Centre de Référence de Pathologie Neuromusculaire Paris-Est, GH Pitié-Salpêtrière, Paris, France.
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.affiliation: EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Réanimation Médicale, APHP, Hôpital Raymond Poincaré, Garches, France; CIC 1429, Inserm-APHP, Hôpital Raymond Poincaré, Garches, France.
authors.forename: David
authors.initials: D
authors.lastname: Orlikowski
authors.affiliation: Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France.
authors.forename: Nadege
authors.initials: N
authors.lastname: Letilly
authors.affiliation: Institut de Myologie, Centre de Référence de Pathologie Neuromusculaire Paris-Est, GH Pitié-Salpêtrière, Paris, France.
authors.forename: Anthony
authors.initials: A
authors.lastname: Behin
authors.affiliation: Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Butel
authors.affiliation: EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Lofaso
authors.affiliation: EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France. Electronic address: helene.prigent@rpc.aphp.fr.
authors.forename: Hélène
authors.initials: H
authors.lastname: Prigent
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D045853:Exhalation; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications*; D012131:Respiratory Insufficiency / Q000150:complications* / Q000503:physiopathology; D012132:Respiratory Muscles / Q000503:physiopathology*; D014797:Vital Capacity; D055815:Young Adult
keywords: Facioscapulohumeral muscular dystrophy; Mechanical ventilation; Neuromuscular respiratory dysfunction; Pulmonary function tests; Respiratory failure