Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity

• Published in: Experimental neurology Vol. 287; no. Pt 2; pp. 216 - 224
• Main Authors: Smith, Barbara K., Martin, A. Daniel, Lawson, Lee Ann, Vernot, Valerie, Marcus, Jordan, Islam, Saleem, Shafi, Nadeem, Corti, Manuela, Collins, Shelley W., Byrne, Barry J.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2017
• Subjects: Adenoviridae - genetics; Adenoviridae - metabolism; Adolescent; alpha-Glucosidases - genetics; alpha-Glucosidases - therapeutic use; Child; Child, Preschool; Diaphragm; Diaphragm - physiology; Electromyography; Exercise Therapy; Female; Gene therapy; Genetic Therapy; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - diagnostic imaging; Glycogen Storage Disease Type II - genetics; Glycogen Storage Disease Type II - therapy; Humans; Magnetic Resonance Imaging; Male; Muscle, Skeletal - physiopathology; Pompe disease; Prospective Studies; Respiratory Insufficiency - diagnostic imaging; Respiratory Insufficiency - etiology; Respiratory Insufficiency - therapy; Treatment Outcome; Ventilatory insufficiency; Pompe disease; MIP; MRI; Ventilatory insufficiency; ERT; GAA; IMST; LC; MV; Diaphragm; Gene therapy

Pompe disease is an inherited disorder due to a mutation in the gene that encodes acid α-glucosidase (GAA). Children with infantile-onset Pompe disease develop progressive hypotonic weakness and cardiopulmonary insufficiency that may eventually require mechanical ventilation (MV). Our team conducted...