Breathing in Duchenne muscular dystrophy: translation to therapy.
J Physiol
; 600(15): 3465-3482, 2022 08.
Article
en En
| MEDLINE
| ID: mdl-35620971
ABSTRACT
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a deficiency in dystrophin - a structural protein which stabilises muscle during contraction. Dystrophin deficiency adversely affects the respiratory system leading to sleep-disordered breathing, hypoventilation, and weakness of the expiratory and inspiratory musculature, which culminate in severe respiratory dysfunction. Muscle degeneration-associated respiratory impairment in neuromuscular disease is a result of disruptions at multiple sites of the respiratory control network, including sensory and motor pathways. As a result of this pathology, respiratory failure is a leading cause of premature death in DMD patients. Currently available treatments for DMD respiratory insufficiency attenuate respiratory symptoms without completely reversing the underlying pathophysiology. This underscores the need to develop curative therapies to improve quality of life and longevity of DMD patients. This review summarises research findings on the pathophysiology of respiratory insufficiencies in DMD disease in humans and animal models, the clinical interventions available to ameliorate symptoms, and gene-based therapeutic strategies uncovered by preclinical animal studies.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
6_ODS3_enfermedades_notrasmisibles
Problema de salud:
6_musculoskeletal_diseases_rheumatic_disorders
Asunto principal:
Distrofia Muscular de Duchenne
/
Enfermedades Neuromusculares
Tipo de estudio:
Prognostic_studies
Aspecto:
Patient_preference
Límite:
Animals
/
Humans
Idioma:
En
Revista:
J Physiol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos