RESUMEN
Myotonic dystrophy type 1 (DM1) is one of the most common muscular dystrophies in adults. This review summarises the current literature regarding the natural history of respiratory dysfunction in DM1, the role of central respiratory drive and peripheral respiratory muscle involvement and its significance in respiratory function, and investigates the relationship between genetics (CTG repeat length) and respiratory dysfunction. The review included all articles that reported spirometry on 10 or more myotonic dystrophy patients. The final review included 55 articles between 1964 and 2017. The major conclusions of this review were (1) confirmation of the current consensus that respiratory dysfunction, predominantly a restrictive ventilatory pattern, is common in myotonic dystrophy and is associated with alveolar hypoventilation, chronic hypercapnia, and sleep disturbance in the form of sleep apnoea and sleep related disordered breathing; (2) contrary to commonly held belief, there is no consensus in the literature regarding the relationship between CTG repeat length and severity of respiratory dysfunction and a relationship has not been established; (3) the natural history and time-course of respiratory functional decline is very poorly understood in the current literature; (4) there is a consensus that there is a significant involvement of central respiratory drive in this alveolar hypoventilation however the current literature does not identify the mechanism for this.
Asunto(s)
Hipercapnia/fisiopatología , Distrofia Miotónica/fisiopatología , Trastornos Respiratorios/fisiopatología , Músculos Respiratorios/fisiopatología , Trastornos del Sueño-Vigilia/fisiopatología , Humanos , Hipercapnia/complicaciones , Hipercapnia/genética , Distrofia Miotónica/genética , Trastornos Respiratorios/complicaciones , Trastornos del Sueño-Vigilia/genética , Expansión de Repetición de Trinucleótido/genéticaRESUMEN
In this case study the authors examined the functioning of the community-based rehabilitation (CBR) program for people with disabilities in 3 pilot districts after the conclusion of donor support in Ghana. Questionnaire and interview data from 42 people with disabilities, 8 local supervisors, and 3 social workers about program structures, support for people with disabilities, and challenges were analyzed using descriptive statistics and qualitative procedures, involving the use of Leximancer software. The authors found that some CBR structures remained in the communities. Diminished support for disabled peoples' organizations from communities and local government agencies were key challenges. The problem of volunteer local supervisors wanting to be paid ignited the evidence versus ideology debate around sustainability of CBR programs.
