Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead

Abstract

Neuromuscular diseases (NMD) include different types of diseases depending on the deficient component of the motor unit involved. They may all be interested by a progressive and sometimes irreversible pump respiratory failure which unfortunately for some NMD may start soon after the diagnosis. Within this vast group of patients those affected by muscle diseases are a subgroup who comprises patients with an average earlier onset of symptoms compared to other NMD. Indeed it is also important to comprehend not just the patient’s burden but also the surrounding families’. Defining the end of life (EoL) phase in these patients is not simple especially in the young patient population. Consequently, the late stage of disease remains poorly defined and challenging. The aim of this review is to describe the EoL phase in NMD patients with attention to QoL and psycological status. The focus would be on one hand on the management of the psycological burden, the communication barriers, and tone of humor. Those topics have been described being crucial in this group of patients as they increase tensions and burden of both patient and family, and between them and the outside world. Thus also causing their social isolation, increasing anxiety and reducing their quality of life. On the other hand the use of cough clearance devices and all the respiratory supports and their withdrawn are carefully evaluated in the view of alleviating respiratory symptoms, improving patient quality of life and above all reaching the patient’s goals of care. Although there is no cure, the advent of supportive interventions including multidisciplinary care (MDC) has improved all the aspects of dying for patients affected by NMD; nevertheless there still a long pathway ahead.