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Neuromuscul Disord. 2015 Aug;25(8):632-9. doi: 10.1016/j.nmd.2015.04.011. Epub 2015 Apr 30.

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.

Author information

1
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.
2
EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France.
3
Institut de Myologie, Centre de Référence de Pathologie Neuromusculaire Paris-Est, GH Pitié-Salpêtrière, Paris, France.
4
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.
5
Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France.
6
EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France.
7
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.

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.

KEYWORDS:

Facioscapulohumeral muscular dystrophy; Mechanical ventilation; Neuromuscular respiratory dysfunction; Pulmonary function tests; Respiratory failure

PMID:
26023000
DOI:
10.1016/j.nmd.2015.04.011
[Indexed for MEDLINE]

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