The Potential of Disease Management for Neuromuscular Hereditary Disorders

Abstract

Neuromuscular hereditary disorders require long-term multidisciplinary rehabilitation management. Although the need for coordinated healthcare management has long been recognized, most neuromuscular disorders are still lacking clinical guidelines about their long-term management and structured evaluation plan with associated services. One of the most prevalent adult-onset neuromuscular disorders, myotonic dystrophy type 1, generally presents several comorbidities and a variable clinical picture, making management a constant challenge. This article presents a healthcare follow-up plan and proposes a nursing case management within a disease management program as an innovative and promising approach. This disease management program and model consists of eight components including population identification processes, evidence-based practice guidelines, collaborative practice, patient self-management education, and process outcomes evaluation (Disease Management Association of America, 2004). It is believed to have the potential to significantly improve healthcare management for neuromuscular hereditary disorders and will prove useful to nurses delivering and organizing services for this population.

Living with myotonic dystrophy; what can be learned from couples? a qualitative study

“…The problems experienced by these couples in relation to coping with loss of abilities, initiative and participation in social activities, decreased quality of life and pressure on family relations and friendships [44] are strikingly similar to the problems experienced in MD1. The consequences of MD1 have been described as comparable to those of the aging population [15]. This is in line with insights that MD1 is considered a progeroid syndrome with accelerated emergence of features of senescence including symptoms of dementia [46].…”

“…Reasons for this are not well understood. Difficulties managing their own health has been attributed to personality features such as diminished persistence and increased avoidance [5,15,16]. It may also be that persons with MD1 perceive their limitations as normal, since the slowly progressive nature of the deterioration gives them time to adapt and live more by what they can do than by what they cannot do [10] or they might have received the message that the disease is progressive and that there is no cure [8].…”

Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy

“…The same probably applies in Sweden. To improve health care for people with DM1, nursing case management on a diseasemanagement model has recently been proposed 150 . The model's components include "population identification processes, evidence-based practice guidelines, collaborative practice, patient self-management education, and process outcome evaluation".…”

Myotonic Dystrophy and Huntington’s Disease Care: “We Like to Think We’re Making a Difference”

“…11 There is a well-recognized DM1 personality pattern described in the literature, suggesting that patients may have low IQ and apathy levels 12 ; in turn, patients may be noncompliant, miss clinic appointments, and seem disinterested in their health. 13,14 Similarly, although HD is characterized by impaired motor function, it is the psychiatric issues-including depression, apathy, anxiety, obsessions and compulsions, impulsivity, irritability and aggression, and psychosis-that are far more debilitating to patients and their families. 7,8 Cognitive impairment variably affects individuals with HD, but when present, results in difficulty with executive function and problems acquiring, processing, and remembering information.…”

“…However, there are strategies to manage symptoms, and the goal for treating individuals with DM1 and HD is to increase quality of life to “reduce the burden of symptoms, maximize function, and to eliminate unnecessary ‘surprises’ as affected individuals pass expected disease milestones.” 6 Because of the relative rarity of DM1 and HD, most family physicians—and many neurologists for that matter—have little experience managing these patients; thus, care is often provided by specialty neuromuscular or movement disorder clinics 14 . The literature suggests that a multidisciplinary approach that supports the individual and his or her family along the disease trajectory is an “ideal” care plan for individuals with DM1 10 , 14 and HD 6 20 Chouinard et al 14 proposed a DM1 management model that considers the multisystem nature of the disorder; the propensity for individuals to have limited educational, economic, and social opportunities; and the lack of knowledge of nonspecialist health care providers (HCPs).…”