Home > RNJ > 2009 > May/June > The Potential of Disease Management for Neuromuscular Hereditary Disorders

The Potential of Disease Management for Neuromuscular Hereditary Disorders
Maud-Christine Chouinard, PhD RN • Cynthia Gagnon, PhD OT • Luc Laberge, PhD • Carmen Tremblay, BSc RN • Charlotte Côté, RN • Nadine Leclerc, BSc RN • Jean Mathieu, MD MSc FRCP(c)

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.

Neuromuscular diseases are conditions in which patients’ symptoms result from abnormalities in peripheral nerves or muscles. Most of these conditions are slowly progressive and involve several impairments and disabilities. Long-term multidisciplinary rehabilitation management is thus often necessary, sometimes as early as childhood. In addition, several of these conditions are genetically inherited and require specialized clinical genetic services involving appropriate screenings, specific preventive measures, anticipatory guidance, and surveillance for treatable complications as well as relationship building with individuals and their families (Wilson, 1999). Although the need for health maintenance and supervision for genetic services has long been recognized (Wilson, 1999), there is a dearth of clinical guidelines for the long-term management of neuromuscular diseases. Among hereditary neuromuscular diseases, one of the most prevalent adult-onset neuromuscular disorders is myotonic dystrophy type 1 (DM1; Emery, 1991). Patients with DM1 generally present several comorbidities and a variable clinical picture, which complicates managing the disorder (Harper, van Engelen, Eymard, Rogers, & Wilcox, 2002). Furthermore, the scarcity of healthcare resources devoted to neuromuscular disorders requires innovations in care delivery methods.

Among healthcare professionals, rehabilitation nurses often provide care to this population in neuromuscular clinics and in community rehabilitation services. However, the scope of their intervention is variable and their expertise is not fully maximized. Although rehabilitation nurses are sometimes part of the interdisciplinary neuromuscular clinic team, they could play a larger role in coordinating other services, monitoring complications, and providing counseling. Some have advocated extending the role of rehabilitation nurses in neuromuscular clinics and community services (Hill & Phillips, 2006). This article presents a healthcare management plan and explores an innovative and promising approach (i.e., nursing case management) to be used within a disease management program in the community.

The Disease

DM1 is far more complex than a mere muscle disease; although it occurs during adulthood, its effects have been compared to those observed in an aging population. DM1 is an autosomal-dominant disorder with unstable cytosine-thymine-guanine (CTG) repeats on chromosome 19q13.3 (Fu et al., 1992). The number of repetitions of the flawed gene increases when transmitted from one generation to the other and is broadly related to the disease’s severity. The disease involves early myotonia and slowly progressive muscle weakness with a distal to proximal pattern (Harper, 2001). DM1 impairs not only the muscular system; additional impairments include cataracts, ptosis, cardiac conduction disorder, executive function impairment, and daytime sleepiness (Harper, 2001). Typically, symptoms become evident during mid-life, but signs can be detected as early as the first decade (Harper, 2001). Life expectancy is also reduced; only 12% of patients with DM1 live past the age of 65 (Mathieu, Allard, Potvin, Prevost, & Begin, 1999). This disease is multifaceted and affects nearly all spheres of social participation, including mobility, education, community life, work, and leisure (Natterlund & Ahlstrom, 2001). Furthermore, the environment of patients with DM1 is characterized by low educational achievements, employment rates, and family incomes (Veillette, Perron, Mathieu, Prevost, & Hébert, 1992).

Healthcare Needs of Patients with Myotonic Dystrophy

Patients with DM1 have diversified healthcare needs that require a variety of primary, secondary, and often tertiary healthcare services. For example, although myotonia (delayed muscle relaxation) is present in all individuals with DM1, other conditions, such as cardiac symptoms, are not always observed. Moreover, because these patients’ social participation is compromised, they frequently require community management services such as house cleaning. In addition, they often present certain personality features, such as diminished persistence, self-directedness, and cooperativeness as well as increased avoidance that hinder their healthcare management ability (Winblad, Lindberg, & Hansen, 2005).

Our team recently proposed a conceptual framework for DM1 management to illustrate the aspects of the disease that must be considered (Gagnon et al., 2007). The following step consists of translating this conceptual framework into an evaluation framework under a healthcare management plan.

The Saguenay-Lac-Saint-Jean region (Québec, Canada) has the world’s highest prevalence of DM1, with 189 affected individuals per 100,000 population (Mathieu, De Braekeleer, & Prevost, 1990). Approximately 450 adults are currently being followed at our neuromuscular clinic. Clinical nurses have been involved in the care of this clientele since 1980, in conjunction with neurologists and an interdisciplinary team. Table 1 presents a health management plan that includes assessment components. The frequency recommendation for each component reflects our clinic’s current practice based on our proposed conceptual framework and can be used by neuromuscular nurses as an indicator in DM1 evaluation procedures. Moreover, this information may help nurses anticipate healthcare concerns and plan their responses to patients’ needs.

Current Healthcare Follow-Up

The care package generally provided to this population is often described as fragmented, inadequate, or even deficient (Donze, Delattre, Viet, & Thevenon, 1999). Most often, primary care physicians or specialists only encounter DM1 when treating one of its particular impairments; therefore, they may not pursue the follow-up required to deal with the multisystemic nature of DM1 (Eymard & Dobon, 2004; Harper, 2004). In best-case scenarios, a neuromuscular clinic is the single entry point for specialized services, including genetic counseling. After the diagnosis is established, the neuromuscular clinic works together with several healthcare partners, including medical clinics and home maintenance services. Optimal use of medical and social resources depends on the expertise of the main care provider as well as his or her knowledge of each partner’s role. Because healthcare partners are usually not linked in a formal way, patients with DM1 find themselves acting as case managers and liaison officers among the various partners during follow-ups, even though their knowledge of their condition and of available services is often limited.

The combination of health (multisystemic disease), educational (low educational attainment), economic (low employment and low income), and social (poor social support network) deprivations (which are general characteristics of patients with DM1) and healthcare professionals’ limited knowledge of the disease warrant a more systematic approach to DM1. The model of care delivery should 1) provide tools and methods to improve healthcare providers’ knowledge, 2) offer a community management perspective, and 3) provide tools and methods to improve patients’ compliance to treatment and management recommendations.

Disease Management Model: Adequacy for DM1

A disease management model involves a system of coordinated healthcare interventions and communication and promotes high-quality standards for the management of diseases (Disease Management Association, 2005). It typically targets people with chronic diseases for whom long-term management, patient education, and close monitoring of symptoms can minimize or prevent complications. Such a program has been developed for several chronic diseases (Rohrbach, 1999), including diabetes and congestive heart failure (Welch, Bergsten, Cutler, Bocchino, & Smith, 2002). The model developed by the Disease Management Association of America (DMAA) identifies eight components (Table 2) required for a disease management program (2004). A disease management program may be a promising avenue for providing health care and community management to patients with DM1 and should be further explored.

A Disease Management Model for DM1

The clinical expertise gathered during the past 25 years from a large cohort of patients with DM1 who had been treated at our neuromuscular clinic allowed us to recognize the need for a more global approach than the traditional medical person-centered model to meet the diesase’s challenges. Using a disease management model for patients with DM1 may help decrease discrepancies in health practice generated by a traditionally clinical approach to evaluation and produce optimal patient management strategies. Such programs have proven to be efficient in increasing patient adherence to management recommendations (Huber, 2005). It is common knowledge that the DM1 patient population demonstrates poor adherence to rehabilitation recommednations and treatments and needs sustained follow-up. In addition, it is important to note that the rationale for using such a model includes the potential to improve patients’ participation and quality-of-life outcomes by addressing needs pertaining to social and vocational issues as well as housing and leisure issues. Finally, this model may help other healthcare professionals become more aware of the complex and interrelated problems associated with patients with DM1. Each component of this model will be described according to the current state of care or the future directions for this patient population’s follow-up.

Population Identification Processes

In genetic disorders, population identification processes are well-organized procedures that consist of genetic services such as diagnosis, risk estimation, counseling, surveillance, and support. Surveillance includes a predictive testing program coordinated by a neuromuscular clinic and provided by a multidisciplinary team including a neurologist, a genetic counselor, and a nurse. Before testing, potential carriers meet with a nurse or genetic counselor to discuss the options for dealing with their genetic background, including disease progression and genetic and clinical features. After a diagnosis of DM1 is confirmed, the prognosis is discussed with the patient and the required follow-up is provided through the neuromuscular clinic. These individuals are also enrolled in the neuromuscular clinic DM1 registry.

Another important step after a diagnosis for an autosomal-dominant disorder has been confirmed is to assess other family members. Early identification is an important feature of the disease management model in DM1 for initiating preventive measures such as family planning, counseling, and prenatal testing.

Risk Stratification and Matching Interventions with Needs

Risk stratification takes into consideration the mortality and morbidity associated with a disease. In the case of DM1, risk stratification may include the four different clinical phenotypes based on the age at onset of disease and the size of the abnormally expanded CTG repeat (Harley et al., 1993). The congenital form (> 1,000 CTG) mainly consists of hypotonia at birth, mental retardation, and progressive muscular dystrophy (de Die-Smulders, 2004). The childhood form of DM1 (< 1,000 CTG) includes the onset of symptoms at a later age (i.e., after age 1 year), indistinct speech, and learning difficulties (de Die-Smulders, 2004). Individuals with the adult phenotype (100–1,000 CTG) demonstrate high symptom heterogeneity, but experience a progressive loss of muscle strength and myotonia. This is the most prevalent phenotype among the DM1 population. Individuals with the mild phenotype (50–150 CTG) are characterized by symptoms occurring at an older age (> 40 years old) and minimal impairment, such as early cataracts (Arsenault et al., 2006).

Each phenotype has a different prognosis; for example, the younger the age of onset, the poorer the long-term survival expectancy (Mathieu et al., 1999). The same phenomenon applies to morbidity because the type and severity of impairments differ according to the various phenotypes and, consequently, require specific evaluation procedures and follow-ups (Harper, 2001). No other risk stratification has been delineated in DM1.

Evidence-Based Practice Guidelines

Among disease management program components, the evidence-based practice for community management has received the least amount of attention. Typically, this component consists of creating interdisciplinary clinical guidelines that have systematically developed statements meant to help practitioners and patients make decisions about appropriate health care for specific clinical diagnoses (Institute of Medicine, 1990). They may be directed at diagnosis, treatment, prevention, prognosis, evaluation, or education (Henning, 1998). Neuromuscular disorders are chronic and degenerative diseases that often necessitate follow-up throughout a patient’s lifetime and usually involve several general and specialized professional resources. Clinical guidelines are necessary to support the practice of less specialized resources (e.g., primary care professionals), who are frequently the main care providers for these populations.

Recommendations have been made to establish clinical guidelines within an integrated care pathway (ICP), also known as coordinated care pathway or care map (Campbell, Hotchkiss, Bradshaw, & Porteous, 1998). An ICP consists of an interdisciplinary care plan outlining the optimal sequencing and timing of interventions for a particular condition (Campbell et al., 1998). It allows for the construction of algorithms and decision trees for evaluation, referral, and action of every health and social indicator characterizing a given condition. The Scottish Clinical Genetic Project previously developed a medical ICP for DM1 (Campbell et al., 2000). The objectives were to ensure that families received well-planned and consistent clinical genetic services and develop a systematic data collection tool. Significant changes in practice were observed after its introduction, namely, recording clinical data such as muscle weakness and anesthetic risks and recommending tests such as electrocardiograms (ECG). Nurses also reported that using an ICP increased their confidence to assume an extended role in the care of patients with DM1.

Collaborative Practice Models

This disease management model also recognizes that neurologists or physicians occasionally practice alone or in small teams without the infrastructure and specialized teams needed for the systematic management of patients with DM1. A collaborative practice model is encouraged when a nursing case manager is part of the team. A nursing case management framework within a disease management program leads to better care, which has been demonstrated with many other diseases (McKee & Nolte, 2004; Ofman et al., 2004). Planning and accessing care could be improved by implementing a community-based nursing case management (CNCM) program, which is a “collaborative process [that] assesses, plans, implements, coordinates, and evaluates options and services to meet an individual’s health needs through communications and available resources promoting quality cost-effective outcomes” (Moreo & Lamb, 2003, p. 54). The CNCM program shifts the responsibility of care coordination from the patient to a specialized nurse who works within a network of services. The nurse acts as the case manager to help achieve the goals set up by the patient and the interdisciplinary team. For DM1, this includes performing follow-ups with individual assessments for service referrals, planning needed services, identifying appropriate resources, and linking patients to these resources, thereby ensuring a continuum of care (Taylor, 1999).

Patient Self-Management Education

Self-management relates to the tasks that an individual must perform to live well with one or more chronic conditions. These tasks include gaining confidence to deal with medical management, role management, and emotional management (Gowan, 2005). Patient self-management education in DM1 should address the following three major domains: anticipatory guidance (key elements of surveillance), self-care (behavior modification), and environmental support system (knowledge of available services). For anticipatory guidance, important preventive issues include informing the patient of the disease progression, teaching the importance of routine tests for probable progression of impairments (e.g., ocular assessment for cataracts), and addressing reproductive issues through genetic counseling. Self-care includes nutrition, exercise, and hygiene instructions, as well as follow-ups. Environmental support systems relate to all available services, but especially economic support, home adaptation, technical aids, home maintenance, and transportation measures.

The cornerstone of patient self-management education is evaluating the patient’s perception of the disease and its consequences. In DM1, self-management education is closely linked to the clinical phenotype. For patients with a mild phenotype, the nurse must make sure that the patient understands the importance of following healthcare recommendations, even in the absence of symptoms. For patients with a more severe prognosis, it is important to discuss goals and life expectations to promote a successful therapeutic alliance and address their most important issues.

Routine Reporting and Feedback Loop

The nursing case manager should report to the attending physician or neurologist and other healthcare partners as necessary. If this component of care is neglected, the treating physician may not be aware of all the interventions provided to a particular patient. Because the neuromuscular clinic often works apart from the patient’s general practitioner, a communication plan should be established based on both their needs. For example, the annual ECG is part of the care plan, but who has the primary responsibility of prescribing and interpreting this exam? Matters such as these should be decided ahead of time to prevent confusion.

Appropriate Use of Technology

The use of technology in disease management programs is becoming increasingly popular. Information about patients with DM1 are typically entered into a computerized disease registry, which includes a reminder system for routine evaluation. In addition, the ICP may benefit from a computer-based decision support tool. In the future, new technologies may help disseminate information about a disease management program through a Web site created for this purpose (Jack, Gambles, Murphy, & Ellershaw, 2003).

Process Outcome Measurement, Evaluation, and Management

The outcome measurement process may vary according to medical conditions, but it generally includes the process of care, variance tracking, clinical and healthcare utilization, functional status, and patient satisfaction (Huber, 2005). Outcome measurement categories include clinical, utilization, financial, quality, humanistic, and intangible measures. Evaluating the benefits of a disease management program for patients with DM1 poses theoretical and practical challenges for several reasons: 1) heterogeneity of clinical manifestations, 2) expected progressive functional decline for most phenotypes, and 3) extensive range of available interventions. Evaluation strategies, therefore, differ from conventional program evaluations, such as cardiac disease management, and should be carefully considered.


The variability and severity of impairments and disabilities that characterize DM1, in addition to the poor social participation of patients with DM1, warrant a reappraisal of the healthcare and community service delivery model for this disease. The disease management model appears to be the most suitable for managing DM1: an ICP allows knowledge to be transmitted more efficiently between all healthcare partners, including the research community; and the case management component partly alleviates the characteristics of a DM1 personality that may hinder a patient’s self-management abilities (Meola et al., 2003).

For neuromuscular nurses, this model represents an opportunity to establish and advance their practice with this population by increasing the scope of their assessment and follow-up responsibilities. This article summarizes the experience of our neuromuscular nursing team and our preliminary attempts to translate it into a disease management model for DM1 follow-up that goes beyond the traditional model of service delivery. First, including a formal population identification process promotes early case identification and enrollment in the disease management program, which seldom occurs with patients with the mild phenotype. Second, the nursing assessment provides a broader perspective than the traditional impairment and disability medical model by including the evaluation of social participation and environmental factors. Third, the development of an ICP supports an evidence-based nursing practice that not only works for assessment, but also for intervention and reference to interdisciplinary neuromuscular, healthcare, and community services. In addition, the disease management model helps foster improved use of professional resources and increased communication among healthcare providers and community resources. Finally, we are currently working on developing and validating components of the disease management model such as self-management and evidenced-based clinical guidelines for a DM1 population within a research program.

Rehabilitation nurses who use this model may be better equipped to care for people affected by a neuromuscular disorder with a rare-to-moderate prevalence like DM1. Further study of neuromuscular nurses’ role in following patients with DM1 is also recommended (Campbell et al., 2000; Hill & Phillips, 2006). This role may include helping patients with DM1 adapt to their disabilities, achieve their greatest potential, and work toward productive, independent lives. The proposed ICP and health management plan may also help rehabilitation nurses meet the medical, vocational, educational, and environmental needs of patients with DM1. Because these tools and the model have been developed for use at home, they will help nurses maximize their efforts to provide support to patients and families, empowering families and teaching them how to access systems and resources. Disease management programs for complex but less frequently occurring diseases have seldom been developed, although they have the potential to significantly improve healthcare management.


Maud-Christine Chouinard holds a new investigator bursary from the Fonds de Recherche en Santé du Québec. Cynthia Gagnon holds a scholarship from the Canadian Institutes of Health Research.

About the Authors

Maud-Christine Chouinard, PhD RN, is a professor in module des sciences infirmières et de la santé at the Université du Québec à Chicoutimi in Québec, Canada, and researcher at the Neuromuscular Clinic of the Centre de Santé et de Services Sociaux de Jonquière in Québec, Canada.

Cynthia Gagnon, PhD OT, is a postdoctoral fellow at the Groupe de Recherché Interdisciplinaire en Santé de l’Université de Montréal and researcher at the Neuromuscular Clinic of the Centre de Santé et de Services Sociaux de Jonquière in Québec, Canada.

Luc Laberge, PhD, is a researcher at Groupe ÉCOBES, Cégep de Jonquière and an associate professor in the Département des sciences de l’éducation et de psychologie at Université du Québec à Chicoutimi in Québec, Canada.

Carmen Tremblay, BSc RN, is a retired clinical nurse.

Charlotte Côté, RN, is a retired clinical nurse.

Nadine Leclerc, BSc RN, is a clinical nurse at the Neuromuscular Clinic of the Centre de Santé et de Services Sociaux de Jonquière in Québec, Canada.

Jean Mathieu, MD MSc FRCP(c), is a neurologist and researcher at the Neuromuscular Clinic of the Centre de Santé et de Services Sociaux de Jonquière in Québec, Canada, and the Centre de Médecine Génique Communautaire de l’Université de Montréal in Québec, Canada.


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