R. Tawil, Facioscapulohumeral muscular dystrophy, Neurotherapeutics, vol.25, issue.4, pp.601-607, 2008.
DOI : 10.1016/j.nurt.2008.07.005

URL : https://hal.archives-ouvertes.fr/hal-00770764

A. Amato and R. J. , Muscular dystrophies, Neuromuscular disorders, pp.529-76, 2008.

M. Griggs, Sleep disordered breathing in facioscapulohumeral muscular dystrophy Alveolar hypoventilation as an early symptom of muscle weakness in facioscapulohumeral muscular dystrophy Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy, J Neurol Sci Sleep Med J Clin Sleep Med, vol.285106, pp.54-62, 2009.

M. Wohlgemuth, B. De-swart, J. Kalf, F. Joosten, . Van-der et al., Dysphagia in facioscapulohumeral muscular dystrophy, Neurology, vol.66, issue.12, pp.1926-1934, 2006.
DOI : 10.1212/01.wnl.0000219760.76441.f8

J. Stubgen and C. Schultz, Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy, Muscle & Nerve, vol.63, issue.6, pp.729-763, 2009.
DOI : 10.1002/mus.21261

M. Wohlgemuth, E. Van-der-kooi, R. Van-kesteren, S. Van-der-maarel, and G. Padberg, Ventilatory support in facioscapulohumeral muscular dystrophy, Neurology, vol.63, issue.1, pp.176-184, 2004.
DOI : 10.1212/01.WNL.0000133126.86377.E8

D. Kilmer, R. Abresch, and M. Mccrory, Facioscapulohumeral Muscular Dystrophy, American Journal of Physical Medicine & Rehabilitation, vol.74, issue.Supplement 1, pp.131-140, 1995.
DOI : 10.1097/00002060-199509001-00007

G. Padberg, P. Lunt, M. Koch, and M. Fardeau, Diagnostic criteria for facioscapulohumeral muscular dystrophy, Neuromuscular Disorders, vol.1, issue.4, pp.231-235, 1991.
DOI : 10.1016/0960-8966(91)90094-9

R. Tawil, S. Van-der-maarel, G. Padberg, and B. Van-engelen, 171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy, Neuromuscular Disorders, vol.20, issue.7, pp.471-476, 2010.
DOI : 10.1016/j.nmd.2010.04.007

P. Laforet, M. Nicolino, and P. Eymard, Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation, Neurology, vol.55, issue.8, pp.1122-1130, 2000.
DOI : 10.1212/WNL.55.8.1122

M. Miller, J. Hankinson, and V. Brusasco, Standardisation of lung function testing: the authors' replies to readers' comments, European Respiratory Journal, vol.36, issue.6, pp.1496-1504, 2010.
DOI : 10.1183/09031936.00130010

P. Quanjer, G. Tammeling, J. Cotes, O. Pedersen, R. Peslin et al., Lung volumes and forced ventilatory flows Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the, pp.5-40, 1993.

F. Heritier, F. Rahm, P. Pasche, and J. Fitting, Sniff nasal inspiratory pressure. A noninvasive assessment of inspiratory muscle strength., American Journal of Respiratory and Critical Care Medicine, vol.150, issue.6, pp.1678-83, 1994.
DOI : 10.1164/ajrccm.150.6.7952632

H. Prigent, M. Lejaille, and L. Falaize, Assessing Inspiratory Muscle Strength by Sniff Nasal Inspiratory Pressure, Neurocritical Care, vol.1, issue.4, pp.475-483, 2004.
DOI : 10.1385/NCC:1:4:475

N. Hart, M. Polkey, and T. Sharshar, Limitations of sniff nasal pressure in patients with severe neuromuscular weakness, Journal of Neurology, Neurosurgery & Psychiatry, vol.74, issue.12, pp.1685-1692, 2003.
DOI : 10.1136/jnnp.74.12.1685

D. Stefanutti, M. Benoist, P. Scheinmann, M. Chaussain, and J. Fitting, Usefulness of Sniff Nasal Pressure in Patients with Neuromuscular or Skeletal Disorders, American Journal of Respiratory and Critical Care Medicine, vol.162, issue.4, pp.1507-1518, 2000.
DOI : 10.1164/ajrccm.162.4.9910034

J. Evans and W. Whitelaw, The assessment of maximal respiratory mouth pressures in adults, Respir Care, vol.54, pp.1348-59, 2009.

A. Suarez, F. Pessolano, and S. Monteiro, Peak Flow and Peak Cough Flow in the Evaluation of Expiratory Muscle Weakness and Bulbar Impairment in Patients with Neuromuscular Disease, American Journal of Physical Medicine & Rehabilitation, vol.81, issue.7, pp.506-517, 2002.
DOI : 10.1097/00002060-200207000-00007

J. Bott, S. Blumenthal, and M. Buxton, Guidelines for the physiotherapy management of the adult, medical, spontaneously breathing patient, Thorax, vol.64, issue.Suppl 1, pp.1-51, 2009.
DOI : 10.1136/thx.2008.110726

C. Iber, S. Ancoli-israel, A. Chesson, and S. Quan, The AASM manual for the scoring of sleep and associated events: rules, terminology, and technical specifications, 2007.

. Anonymous, Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation ? a consensus conference report, Chest, vol.116, pp.521-555, 1999.

. Anonymous, Obesity: preventing and managing the global epidemic Report of a WHO consultation, World Health Organ Tech Rep Ser, vol.894, pp.1-253, 2000.

G. Trebbia, M. Lacombe, and C. Fermanian, Cough determinants in patients with neuromuscular disease, Respiratory Physiology & Neurobiology, vol.146, issue.2-3, pp.291-300, 2005.
DOI : 10.1016/j.resp.2005.01.001

S. Pandya, W. King, R. Tawil, and . Facioscapulohumeral-dystrophy, Facioscapulohumeral Dystrophy, Physical Therapy, vol.88, issue.1, pp.105-118, 2008.
DOI : 10.2522/ptj.20070104

S. Allen, B. Hunt, and M. Green, Fall in vital capacity with posture, British Journal of Diseases of the Chest, vol.79, pp.267-71, 1985.
DOI : 10.1016/0007-0971(85)90047-6

C. Fromageot, F. Lofaso, and D. Annane, Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders, Archives of Physical Medicine and Rehabilitation, vol.82, issue.1, pp.123-131, 2001.
DOI : 10.1053/apmr.2001.18053

N. Shahrizaila, W. Kinnear, and A. Wills, Respiratory involvement in inherited primary muscle conditions, Journal of Neurology, Neurosurgery & Psychiatry, vol.77, issue.10, pp.1108-1123, 2006.
DOI : 10.1136/jnnp.2005.078881

J. Bach and L. Saporito, Criteria for Extubation and Tracheostomy Tube Removal for Patients With Ventilatory Failure, Chest, vol.110, issue.6, pp.1566-71, 1996.
DOI : 10.1378/chest.110.6.1566

T. Young, M. Palta, J. Dempsey, J. Skatrud, S. Weber et al., The Occurrence of Sleep-Disordered Breathing among Middle-Aged Adults, New England Journal of Medicine, vol.328, issue.17, pp.1230-1235, 1993.
DOI : 10.1056/NEJM199304293281704

S. R. Inkley, F. C. Oldenburg, P. J. Vignos, and J. , Genetic and clinical correlations of Xp21 muscular dystrophy Pulmonary function in Duchenne muscular dystrophy related to stage of disease, J Inherit Metab Dis Am J Med, vol.15, issue.56, pp.551-564, 1974.

M. Griggs, Sleep-disordered Breathing in Neuromuscular Disease Am J Respir Crit Care Med 191 (2015) 979-989 Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival Respir Care The natural history of cardiac and pulmonary function decline in patients with duchenne muscular dystrophy Spine, Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation Neuromuscul Disord, pp.744-750, 1976.

Y. Ishikawa, T. Miura, Y. Ishikawa, T. Aoyagi, H. Ogata et al., Duchenne muscular dystrophy: Survival by cardio-respiratory interventions, Neuromuscular Disorders, vol.21, issue.1, pp.47-51, 2011.
DOI : 10.1016/j.nmd.2010.09.006

M. F. Phillips, R. C. Quinlivan, R. H. Edwards, P. M. Calverley, J. Jeppesen et al., Changes in Spirometry Over Time as a Prognostic Marker in Patients with Duchenne Muscular Dystrophy, American Journal of Respiratory and Critical Care Medicine, vol.164, issue.12, pp.2191-2194, 1977.
DOI : 10.1164/ajrccm.164.12.2103052

A. Thoracic12, ]. D. Mckim, S. L. Katz, N. Barrowman, A. Ni et al., Lung volume recruitment slows pulmonary function decline in Duchenne muscular dystrophy Long-term effects of nasal intermittent positive-pressure ventilation on pulmonary function and sleep architecture in patients with neuromuscular diseases, ATS consensus statement Am J Respir Crit Care Med Arch Phys Med Rehabil Chest, vol.170, issue.110, pp.456-465, 1996.

J. C. Raphael, S. Chevret, C. Chastang, F. Bouvet, S. Abbs et al., French Multicentre Cooperative Group on Home Mechanical Ventilation Assistance in Duchenne de Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies Standardisation of lung function testing: the authors' replies to readers' comments Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, Duchenne muscular dystrophy. [18] F. Heritier, F. Rahm, P. Pasche, J.W. Fitting, Sniff nasal inspiratory pressure. A noninvasive assessment of inspiratory muscle strength Am J Respir Crit Care Med, pp.1600-1604, 1993.

M. I. Hart, T. Polkey, L. Sharshar, B. Falaize, J. C. Fauroux et al., Limitations of sniff nasal pressure in patients with severe neuromuscular weakness Usefulness of sniff nasal pressure in patients with neuromuscular or skeletal disorders [22] Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy Clinical implications of maximal respiratory pressure determinations for individuals with Duchenne muscular dystrophy Vincenti, Long-term nasal intermittent positive pressure ventilation in advanced Duchenne's muscular dystrophy Site-dependent pathological differences in smooth muscles and skeletal muscles of the adult mdx mouse, Response to high-intensity eccentric muscle contractions in persons with myopathic disease Muscle Nerve Dystrophin protects the sarcolemma from stresses developed during muscle contraction Proc Natl Acad Sci U S A 90, pp.475-478, 1970.

R. Bibliographiques, Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, Chest, vol.116, issue.2, pp.521-534, 1999.

L. S. Aboussouan, Sleep-disordered Breathing in Neuromuscular Disease, American Journal of Respiratory and Critical Care Medicine, vol.191, issue.9, 2015.
DOI : 10.1164/rccm.201412-2224CI

A. Thoracic-society, /. European-respiratory, and S. , ATS/ERS Statement on respiratory muscle testing, Am J Respir Crit Care Med, vol.166, issue.4, pp.518-624, 2002.

D. Annane, D. Orlikowski, and S. Chevret, Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders, Cochrane Database Syst Rev, vol.12, p.1941, 2014.

J. R. Bach, Amyotrophic lateral sclerosis: Predictors for prolongation of life by noninvasive respiratory aids, Archives of Physical Medicine and Rehabilitation, vol.76, issue.9, pp.828-832, 1995.
DOI : 10.1016/S0003-9993(95)80547-8

J. R. Bach and M. Goncalves, Ventilator Weaning by Lung Expansion and Decannulation, American Journal of Physical Medicine & Rehabilitation, vol.83, issue.7, pp.560-568, 2004.
DOI : 10.1097/01.PHM.0000130027.80861.B8

J. R. Bach, K. Mahajan, B. Lipa, L. Saporito, M. Goncalves et al., Lung Insufflation Capacity in Neuromuscular Disease, American Journal of Physical Medicine & Rehabilitation, vol.87, issue.9, pp.720-725, 2008.
DOI : 10.1097/PHM.0b013e31817fb26f

J. R. Bach, J. O-'brien, R. Krotenberg, and A. S. Alba, Management of end stage respiratory failure in duchenne muscular dystrophy, Muscle & Nerve, vol.65, issue.2, pp.177-182, 1987.
DOI : 10.1002/mus.880100212

J. R. Bach and L. R. Saporito, Criteria for Extubation and Tracheostomy Tube Removal for Patients With Ventilatory Failure, Chest, vol.110, issue.6, pp.1566-1571, 1996.
DOI : 10.1378/chest.110.6.1566

F. Barbe, M. A. Quera-salva, J. De-lattre, P. Gajdos, and A. G. Agusti, Long-term Effects of Nasal Intermittent Positive-Pressure Ventilation on Pulmonary Function and Sleep Architecture in Patients With Neuromuscular Diseases, Chest, vol.110, issue.5, pp.1179-1183, 1996.
DOI : 10.1378/chest.110.5.1179

A. Baydur, I. Gilgoff, W. Prentice, M. Carlson, and D. A. Fischer, Decline in respiratory function and experience with long-term assisted ventilation in advanced, 1990.

P. Begin, J. Mathieu, J. Almirall, and A. Grassino, Relationship Between Chronic Hypercapnia and Inspiratory-Muscle Weakness in Myotonic Dystrophy, American Journal of Respiratory and Critical Care Medicine, vol.156, issue.1, pp.133-139, 1997.
DOI : 10.1164/ajrccm.156.1.9509041

J. O. Benditt and L. J. Boitano, Pulmonary Issues in Patients with Chronic Neuromuscular Disease, American Journal of Respiratory and Critical Care Medicine, vol.187, issue.10, pp.1046-1055, 2013.
DOI : 10.1164/rccm.201210-1804CI

S. Benedetti, H. Hoshiya, and F. S. Tedesco, Repair or replace? Exploiting novel gene and cell therapy strategies for muscular dystrophies, FEBS Journal, vol.17, issue.17, pp.4263-4280, 2013.
DOI : 10.1111/febs.12178

D. J. Birnkrant, The Assessment and Management of the Respiratory Complications of Pediatric Neuromuscular Diseases, Clinical Pediatrics, vol.40, issue.5, pp.301-308, 2002.
DOI : 10.1177/000992280204100502

J. Vaughn and G. White, Guidelines for the physiotherapy management of the adult, medical, spontaneously breathing patient, British Thoracic Society Physiotherapy Guideline Development Thorax, vol.64, issue.1, pp.1-51, 2009.

X. and R. J. Samulski, Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector, Mol Ther, vol.20, issue.2, pp.443-455, 2012.

M. D. Group, Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol, vol.9, issue.1, pp.77-93, 2010.

C. E. Panel, Anatomy and neurophysiology of cough: CHEST Guideline and Expert Panel report, Chest, vol.146, issue.6, pp.1633-1648, 2014.

S. E. Cattapan, F. Laghi, and M. J. Tobin, Can diaphragmatic contractility be assessed by airway twitch pressure in mechanically ventilated patients?, Thorax, vol.58, issue.1, pp.58-62, 2003.
DOI : 10.1136/thorax.58.1.58

F. Chabot, A. Cornette, V. Robert, B. Vial, and J. M. Polu, [Home ventilation after intensive care], Rev Mal Respir, vol.18, issue.3, pp.267-282, 2001.

S. B. Kole, C. Shrewsbury, J. E. Sewry, K. Morgan, F. Bushby et al., Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, doseescalation study, Lancet, vol.378, issue.9791, pp.595-605, 2011.

E. Dean, J. Ross, J. D. Road, L. Courtenay, and K. J. Madill, Pulmonary Function in Individuals with a History of Poliomyelitis, Chest, vol.100, issue.1, pp.118-123, 1991.
DOI : 10.1378/chest.100.1.118

E. Rossi, T. Scarano, A. Pirronti, S. Cianfoni, P. A. Mazza et al., Sleep disordered breathing in facioscapulohumeral muscular dystrophy, J Neurol Sci, vol.285, issue.12, pp.54-58, 2009.

D. Marca, G. , R. Frusciante, C. Vollono, E. Iannaccone et al., Pain and the Alpha-Sleep Anomaly: A Mechanism of Sleep Disruption in Facioscapulohumeral Muscular Dystrophy, Pain Medicine, vol.14, issue.4, pp.487-497, 2013.
DOI : 10.1111/pme.12054

E. R. Ellis, P. T. Bye, J. W. Bruderer, and C. E. Sullivan, Treatment of respiratory failure during sleep in patients with neuromuscular disease. Positive-pressure ventilation through a nose mask, Am Rev Respir Dis, vol.135, issue.1, pp.148-152, 1987.

J. Emerson, The Evolution of Iron Lungs -Respirators of the body-encasing type, 1978.

S. K. Epstein, An overview of respiratory muscle function, Clin Chest Med, vol.15, issue.4, pp.619-639, 1994.

. Corti, Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation, Cell Mol Life Sci, vol.71, issue.17, pp.3257-3268, 2014.

H. Kravitz, C. Panitch, M. Schramm, G. Schroth, L. Sharma et al., Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement, Am J Respir Crit Care Med, vol.170, issue.4, pp.456-465, 2004.

D. Fiorenza, M. Vitacca, L. Bianchi, L. Gabbrielli, and N. Ambrosino, Lung function and disability in neuromuscular patients at first admission to a respiratory clinic, Respiratory Medicine, vol.105, issue.1, pp.151-158, 2011.
DOI : 10.1016/j.rmed.2010.09.018

J. W. Fitting, R. Paillex, L. Hirt, P. Aebischer, and M. Schluep, Sniff nasal pressure: A sensitive respiratory test to assess progression of amyotrophic lateral sclerosis, Annals of Neurology, vol.40, issue.6, pp.887-893, 1999.
DOI : 10.1002/1531-8249(199912)46:6<887::AID-ANA11>3.0.CO;2-L

H. Fukunaga, R. Okubo, T. Moritoyo, N. Kawashima, and M. Osame, Long-term follow-up of patients with Duchenne muscular dystrophy receiving ventilatory support, Muscle & Nerve, vol.96, issue.5, pp.554-558, 1993.
DOI : 10.1002/mus.880160519

A. Milardi and . Toscano, Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment, Neuromuscul Disord, vol.25, issue.11, pp.852-858, 2015.

. Van-deutekom, Systemic administration of PRO051 in Duchenne's muscular dystrophy, N Engl J Med, vol.364, issue.16, pp.1513-1522, 2011.

E. Gomez-merino and J. R. Bach, Duchenne Muscular Dystrophy, American Journal of Physical Medicine & Rehabilitation, vol.81, issue.6, pp.411-415, 2002.
DOI : 10.1097/00002060-200206000-00003

A. G. Goyenvalle, G. Avril, A. Amthor, H. Garcia, and L. , Un nouvel outil pour le??traitement de la myopathie de Duchenne : les tricyclo-ADN, m??decine/sciences, vol.31, issue.3, pp.31-253, 2015.
DOI : 10.1051/medsci/20153103009

R. C. Griggs, R. T. Moxley, J. R. Mendell, G. M. Fenichel, M. H. Brooke et al., Prednisone in Duchenne Dystrophy, Archives of Neurology, vol.48, issue.4, pp.383-388, 1991.
DOI : 10.1001/archneur.1991.00530160047012

A. F. Hahn, Guillain-Barr?? syndrome, The Lancet, vol.352, issue.9128, pp.635-641, 1998.
DOI : 10.1016/S0140-6736(97)12308-X

J. M. Escolar, P. R. Florence, E. P. Clemens, C. M. Hoffman, C. Mcdonald et al., The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures, Muscle Nerve, vol.48, issue.1, pp.55-67, 2013.

F. Heritier, F. Rahm, P. Pasche, and J. W. Fitting, Sniff nasal inspiratory pressure. A noninvasive assessment of inspiratory muscle strength., American Journal of Respiratory and Critical Care Medicine, vol.150, issue.6, pp.1678-1683, 1994.
DOI : 10.1164/ajrccm.150.6.7952632

D. N. Homnick, F. White, and C. De-castro, Comparison of effects of an intrapulmonary percussive ventilator to standard aerosol and chest physiotherapy in treatment of cystic fibrosis, Pediatric Pulmonology, vol.17, issue.1, pp.50-55, 1995.
DOI : 10.1002/ppul.1950200110

R. Hooke, An Account of an Experiment Made by Mr. Hook, of Preserving Animals Alive by Blowing through Their Lungs with Bellows, Philosophical Transactions of the Royal Society of London, vol.2, issue.23-32, pp.539-540, 1967.
DOI : 10.1098/rstl.1666.0043

S. Zhong, Use of a two-way non-rebreathing valve to simplify the measurement of twitch mouth pressure using an inspiratory pressure trigger and the establishment of an optimal trigger threshold for healthy subjects and COPD patients, Respir Physiol Neurobiol, vol.201, pp.47-54, 2014.

R. A. Hughes, A. V. Swan, J. C. Raphael, D. Annane, R. Van-koningsveld et al., Immunotherapy for Guillain-Barre syndrome: a systematic review, Brain, vol.130, issue.9, pp.2245-2257, 2007.
DOI : 10.1093/brain/awm004

. Tuffery-giraud, Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials, Eur J Paediatr Neurol, vol.16, issue.2, pp.149-160, 2012.

B. Ibsen, The anaesthetist's viewpoint on the treatment of respiratory complications in poliomyelitis during the epidemic in Copenhagen, Proc R Soc Med, vol.47, issue.1, pp.72-74, 1952.

R. Jalinous, Technical and Practical Aspects of Magnetic Nerve Stimulation, Journal of Clinical Neurophysiology, vol.8, issue.1, pp.10-25, 1991.
DOI : 10.1097/00004691-199101000-00004

J. G. Jenkins, D. Bohn, J. F. Edmonds, H. Levison, and G. A. Barker, Evaluation of pulmonary function in muscular dystrophy patients requiring spinal surgery, Critical Care Medicine, vol.10, issue.10, pp.645-649, 1982.
DOI : 10.1097/00003246-198210000-00005

J. Jeppesen, A. Green, B. F. Steffensen, and J. Rahbek, The Duchenne muscular dystrophy population in Denmark, 1977???2001: prevalence, incidence and survival in relation to the introduction of ventilator use, Neuromuscular Disorders, vol.13, issue.10, pp.804-812, 2003.
DOI : 10.1016/S0960-8966(03)00162-7

D. C. Johnson and H. Kazemi, Central control of ventilation in neuromuscular disease, Clin Chest Med, vol.15, issue.4, pp.607-617, 1994.

A. Jones, Improvement in vaccum apparatus for treating diseases, 1864.

B. Jones, Normal and abnormal swallowing: imaging in diagnosis and therapy, 2003.

H. J. Kabitz, D. Walker, S. Walterspacher, and W. Windisch, Controlled twitch mouth pressure reliably predicts twitch esophageal pressure, Respiratory Physiology & Neurobiology, vol.156, issue.3, pp.276-282, 2007.
DOI : 10.1016/j.resp.2006.10.007

S. W. Kang and J. R. Bach, Maximum Insufflation Capacity, Chest, vol.118, issue.1, pp.61-65, 2000.
DOI : 10.1378/chest.118.1.61

F. Laghi and M. J. Tobin, Relationship between transdiaphragmatic and mouth twitch pressures at functional residual capacity, Eur Respir J, vol.10, issue.3, pp.530-536, 1997.

M. Levitzky, Pulmonary Physiology, 2013.

D. P. Fogel and . White, Genioglossal muscle response to CO2 stimulation during NREM sleep, Sleep, vol.29, issue.4, pp.470-477, 2006.

J. M. Lopes, E. Tabachnik, N. L. Muller, H. Levison, and A. C. Bryan, Total airway resistance and respiratory muscle activity during sleep, J Appl Physiol Respir Environ Exerc Physiol, vol.54, issue.3, pp.773-777, 1983.

J. O. Maillard, L. Burdet, G. Van-melle, and J. W. Fitting, Reproducibility of twitch mouth pressure, sniff nasal inspiratory pressure, and maximal inspiratory pressure, European Respiratory Journal, vol.11, issue.4, pp.901-905, 1998.
DOI : 10.1183/09031936.98.11040901

W. D. Man, J. Moxham, and M. I. Polkey, Magnetic stimulation for the measurement of respiratory and skeletal muscle function, European Respiratory Journal, vol.24, issue.5, pp.846-860, 2004.
DOI : 10.1183/09031936.04.00029004

J. H. Marks, K. L. Hare, R. A. Saunders, and D. N. Homnick, Pulmonary Function and Sputum Production in Patients With Cystic Fibrosis, Chest, vol.125, issue.4, pp.1507-1511, 2004.
DOI : 10.1378/chest.125.4.1507

J. Bautista-galdiz, E. I. Gea, and . Copd, [Determination of maximal diaphragm strength in chronic obstructive pulmonary disease: cervical magnetic stimulation versus traditional sniff maneuver], Arch Bronconeumol, vol.42, issue.10, pp.509-515, 2006.

J. Mathieu, P. Allard, L. Potvin, C. Prevost, and P. Begin, A 10-year study of mortality in a cohort of patients with myotonic dystrophy, Neurology, vol.52, issue.8, pp.1658-1662, 1999.
DOI : 10.1212/WNL.52.8.1658

F. D. Mccool, Global Physiology and Pathophysiology of Cough, Chest, vol.129, issue.1, pp.48-53, 2006.
DOI : 10.1378/chest.129.1_suppl.48S

B. J. Kilmer and . Sigford, Profiles of neuromuscular diseases. Duchenne muscular dystrophy, Am J Phys Med Rehabil, vol.74, issue.5, pp.70-92, 1995.

D. A. Mckim, S. L. Katz, N. Barrowman, A. Ni, and C. Leblanc, Lung Volume Recruitment Slows Pulmonary Function Decline in Duchenne Muscular Dystrophy, Archives of Physical Medicine and Rehabilitation, vol.93, issue.7, pp.1117-1122, 2012.
DOI : 10.1016/j.apmr.2012.02.024

L. King, S. Signore, J. Pandya, and . Florence, Randomized, double-blind sixmonth trial of prednisone in Duchenne's muscular dystrophy, N Engl J Med, vol.320, issue.24, pp.1592-1597, 1989.

G. Meola, Clinical and genetic heterogeneity in myotonic dystrophies, Muscle & Nerve, vol.4, issue.12, pp.1789-1799, 2000.
DOI : 10.1002/1097-4598(200012)23:12<1789::AID-MUS2>3.0.CO;2-4

H. F. Meric, D. Orlikowski, D. Prigent, H. Lofaso, and F. , 3D analysis of the chest wall motion for monitoring late-onset Pompe disease patients, Neuromuscular Disorders, vol.26, issue.2, 2015.
DOI : 10.1016/j.nmd.2015.11.003

J. S. Kalra, H. Katz, J. Mitsumoto, C. Rosenfeld, M. J. Shoesmith et al., Quality Standards Subcommittee of the American Academy ofPractice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the, Neurology, vol.73, issue.15, pp.1218-1226, 2009.

L. J. Miske, E. M. Hickey, S. M. Kolb, D. J. Weiner, and H. B. Panitch, Use of the Mechanical In-Exsufflator in Pediatric Patients With Neuromuscular Disease and Impaired Cough, Chest, vol.125, issue.4, pp.1406-1412, 2004.
DOI : 10.1378/chest.125.4.1406

M. J. Molnar, R. Gilbert, Y. Lu, A. B. Liu, A. Guo et al., Factors Influencing the Efficacy, Longevity, and Safety of Electroporation-Assisted Plasmid-Based Gene Transfer into Mouse Muscles, Molecular Therapy, vol.10, issue.3, pp.447-455, 2004.
DOI : 10.1016/j.ymthe.2004.06.642

J. F. Muir, [Home mechanical ventilation in France], Rev Mal Respir, vol.213, issue.1, pp.461-464, 2004.

J. Nardi, H. Prigent, A. Adala, M. Bohic, F. Lebargy et al., Nocturnal Oximetry and Transcutaneous Carbon Dioxide in Home-Ventilated Neuromuscular Patients, Respiratory Care, vol.57, issue.9, pp.1425-1430, 2012.
DOI : 10.4187/respcare.01658

J. Nardi, H. Prigent, B. Garnier, F. Lebargy, M. A. Quera-salva et al., Efficiency of invasive mechanical ventilation during sleep in Duchenne muscular dystrophy, Sleep Medicine, vol.13, issue.8, pp.1056-1065, 2012.
DOI : 10.1016/j.sleep.2012.05.014

R. Paiva, U. Krivec, G. Aubertin, E. Cohen, A. Clement et al., Carbon dioxide monitoring during long-term noninvasive respiratory support in children, Intensive Care Medicine, vol.120, issue.Suppl. 16, pp.1068-1074, 2009.
DOI : 10.1007/s00134-009-1408-5

N. Pellegrini, P. Laforet, D. Orlikowski, M. Pellegrini, C. Caillaud et al., Respiratory insufficiency and limb muscle weakness in adults with, 2005.

T. Perez, Maladies neuromusculaires : ??valuation des fonctions ventilatoires, Revue Neurologique, vol.162, issue.4, pp.437-444, 2006.
DOI : 10.1016/S0035-3787(06)75034-2

A. J. Piper and C. E. Sullivan, Effects of long-term nocturnal nasal ventilation on spontaneous breathing during sleep in neuromuscular and chest wall disorders, European Respiratory Journal, vol.9, issue.7, pp.1515-1522, 1996.
DOI : 10.1183/09031936.96.09071515

M. I. Polkey, M. Green, and J. Moxham, Measurement of respiratory muscle strength., Thorax, vol.50, issue.11, pp.1131-1135, 1995.
DOI : 10.1136/thx.50.11.1131

S. Quijano-roy, R. Y. Carlier, and D. Fischer, Muscle Imaging in Congenital Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.221-229, 2011.
DOI : 10.1016/j.spen.2011.10.003

J. Rabkin, M. Ogino, R. Goetz, M. Mcelhiney, A. Marziliano et al., Tracheostomy with invasive ventilation for ALS patients: Neurologists??? roles in the US and Japan, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol.9, issue.1, pp.116-123, 2013.
DOI : 10.1007/s004150170140

J. Blaney, A. Moxham, and . Greenough, Twitch airway pressure elicited by magnetic phrenic nerve stimulation in anesthetized healthy children, Pediatr Pulmonol, vol.40, issue.2, pp.141-147, 2005.

M. Ramsay, S. Mandal, E. S. Suh, J. Steier, A. Douiri et al., Parasternal electromyography to determine the relationship between patient-ventilator asynchrony and nocturnal gas exchange during home mechanical ventilation set-up, Thorax, vol.36, issue.(Suppl 1), pp.946-952, 2015.
DOI : 10.1136/thoraxjnl-2015-206944

G. J. Riffard, A. Labeix, and P. , Que faire en cas d'inefficacité de la toux? Intérêt et modalités d'utilisation du Cough-Assist, Kinésither Rev, vol.103, pp.11-17, 2010.

J. W. Revelly and . Fitting, Appropriateness of respiratory care: evidence-based guidelines, Swiss Med Wkly, vol.139, pp.27-28, 2009.

J. Sancho, E. Servera, J. Diaz, and J. Marin, Efficacy of Mechanical Insufflation-Exsufflation in Medically Stable Patients With Amyotrophic Lateral Sclerosis, Chest, vol.125, issue.4, pp.1400-1405, 2004.
DOI : 10.1378/chest.125.4.1400

A. F. Santé, Recommandations pour la pratique clinique -Modalités pratiques de la ventilation non invasive en pression positive, pp.1-49, 2006.

B. Schoser, V. Hill, and N. Raben, Therapeutic approaches in glycogen storage disease type II/pompe disease, Neurotherapeutics, vol.33, issue.5, pp.569-578, 2008.
DOI : 10.1016/j.nurt.2008.08.009

. Rynders, Coordination of deglutition and phases of respiration: effect of aging, tachypnea, bolus volume, and chronic obstructive pulmonary disease, Am J Physiol, vol.2635, pp.750-755, 1992.

A. K. Simonds, F. Muntoni, S. Heather, and S. Fielding, Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy, Thorax, vol.53, issue.11, pp.949-952, 1998.
DOI : 10.1136/thx.53.11.949

F. Stehling, A. Bouikidis, U. Schara, and U. Mellies, Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders, Chronic Respiratory Disease, vol.81, issue.4, pp.31-35, 2015.
DOI : 10.1183/09031936.05.00034805

I. Polkey and J. Moxham, The value of multiple tests of respiratory muscle strength, Thorax, vol.62, issue.11, pp.975-980, 2007.

C. E. Sullivan, F. G. Issa, M. Berthon-jones, and L. Eves, REVERSAL OF OBSTRUCTIVE SLEEP APNOEA BY CONTINUOUS POSITIVE AIRWAY PRESSURE APPLIED THROUGH THE NARES, The Lancet, vol.317, issue.8225, pp.862-865, 1981.
DOI : 10.1016/S0140-6736(81)92140-1

N. Syabbalo, Assessment of respiratory muscle function and strength., Postgraduate Medical Journal, vol.74, issue.870, pp.208-215, 1998.
DOI : 10.1136/pgmj.74.870.208

N. Terzi, F. Corne, A. Mouadil, F. Lofaso, and H. Normand, Mouth and Nasal Inspiratory Pressure: Learning Effect and Reproducibility in Healthy Adults, Respiration, vol.80, issue.5, pp.379-386, 2010.
DOI : 10.1159/000254378

M. E. Brannagan, L. P. Fink, and . Rowland, Myasthenic crisis: clinical features, mortality, complications, and risk factors for prolonged intubation, Neurology, vol.48, issue.5, pp.1253-1260, 1997.

R. and F. Lofaso, Cough determinants in patients with neuromuscular disease, 2005.

A. C. Tzeng and J. R. Bach, Prevention of Pulmonary Morbidity for Patients With Neuromuscular Disease, Chest, vol.118, issue.5, pp.1390-1396, 2000.
DOI : 10.1378/chest.118.5.1390

A. Vianello, M. Bevilacqua, V. Salvador, C. Cardaioli, and E. Vincenti, Long-term Nasal Intermittent Positive Pressure Ventilation in Advanced Duchenne's Muscular Dystrophy, Chest, vol.105, issue.2, pp.445-448, 1994.
DOI : 10.1378/chest.105.2.445

A. Vulin, I. Barthelemy, A. Goyenvalle, J. L. Thibaud, C. Beley et al., Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping, Molecular Therapy, vol.20, issue.11, pp.2120-2133, 2012.
DOI : 10.1038/mt.2012.181

K. R. Wagner, N. Lechtzin, and D. P. Judge, Current treatment of adult Duchenne muscular dystrophy, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1772, issue.2, pp.229-237, 2007.
DOI : 10.1016/j.bbadis.2006.06.009

URL : https://hal.archives-ouvertes.fr/hal-00562721

S. Ward, M. Chatwin, S. Heather, and A. K. Simonds, Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia, Thorax, vol.60, issue.12, pp.1019-1024, 2005.
DOI : 10.1136/thx.2004.037424

J. Weinberg, B. Klefbeck, J. Borg, and E. Svanborg, Polysomnography in Chronic Neuromuscular Disease, Respiration, vol.70, issue.4, pp.349-354, 2003.
DOI : 10.1159/000072896

M. A. Welch, B. J. Jr, P. Shapiro, W. Mercurio, G. Wagner et al., Methods of Intermittent Positive Pressure Breathing, Chest, vol.78, issue.3, pp.463-467, 1980.
DOI : 10.1378/chest.78.3.463

W. Windisch, H. J. Kabitz, and S. Sorichter, Influence of Different Trigger Techniques on Twitch Mouth Pressure During Bilateral Anterior Magnetic Phrenic Nerve Stimulation, Chest, vol.128, issue.1, pp.190-195, 2005.
DOI : 10.1378/chest.128.1.190

J. L. Winters, Plasma exchange: concepts, mechanisms, and an overview of the American Society for Apheresis guidelines, Hematology Am Soc Hematol Educ Program, vol.2012, pp.7-12, 2012.

B. Santos, D. Boussaid, G. Stojkovic, T. Orlikowski, D. Letilly et al., Respiratory Muscle Dysfunction in Fascioscapulohumeral Muscular Dystrophy, 14 th International Conference on Home Mechanical Ventilation ? 5 th European Respiratory Care Association Congress, 2015.

B. Santos, D. Falaize, L. Lejaille, M. Louis, B. Desmarais et al., Non-invasive and non-volitional evaluation of diaphragmatic force at neuromuscular diseases, 14 th International Conference on Home Mechanical Ventilation ? 5 th European Respiratory Care Association Congress, 2015.