title: Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?
abstract: BACKGROUND
  We present a case of facioscapulohumeral muscular dystrophy (FSHD) with a diaphragm paralysis as the primary cause of ventilatory failure. FSHD is an autosomal dominant inherited disorder with a restricted pattern of weakness. Although respiratory weakness is a relatively unknown in FSHD, it is not uncommon.
  
  
  METHODS
  We report on the clinical findings of a 68-year old male who presented with severe dyspnea while supine.
  
  
  RESULTS
  Supplementing our clinical findings with laboratory, electrophysiological and radiological performances led to the diagnosis of diaphragm paralysis. Arterial blood gas in sitting position without supplemental oxygen showed a mild hypercapnia. His sleep improved after starting non-invasive ventilation and his daytime sleepiness disappeared.
  
  
  CONCLUSIONS
  We conclude that in patients with FSHD who have symptoms of nocturnal hypoventilation, an adequate assessment of the diaphragm is recommended. This is of great importance as we know that nocturnal hypoventilation can be treated effectively by non-invasive ventilation.
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Pulmonology and Tuberculosis, Department of Home Mechanical Ventilation, Groningen, The Netherlands ; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Hazenberg
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: van Alfen
authors.affiliation: Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Centre, Nijmegen, RMC Groot Klimmendaal, Arnhem, The Netherlands.
authors.forename: N B M
authors.initials: NB
authors.lastname: Voet
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Pulmonology and Tuberculosis, Department of Home Mechanical Ventilation, Groningen, The Netherlands ; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, The Netherlands.
authors.forename: H A M
authors.initials: HA
authors.lastname: Kerstjens
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Pulmonology and Tuberculosis, Department of Home Mechanical Ventilation, Groningen, The Netherlands ; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, The Netherlands.
authors.forename: P J
authors.initials: PJ
authors.lastname: Wijkstra
keywords: Chronic respiratory failure; DUX4, double homeobox; Diaphragm paralysis; FSHD, facioscapulohumeral muscular dystrophy; FVC, forced vital capacity; Facioscapulohumeral muscular dystrophy; HCO3, bicarbonate; NIPPV, non-invasive positive pressure ventilation; Non invasive positive pressure ventilation; PSG, polysomnography; Sleep; SpO2, oxygen saturation; kPa, kilopascal; pH, acidity level; paCO2, partial pressure of arterial carbon dioxide; paO2, partial pressure of arterial oxygen; tcpCO2, transcutaneous carbon dioxide