Muscular Dystrophies

MUSCULAR DYSTROPHIES

The muscular dystrophies are a group of chronic muscle disor-ders characterized by progressive weakening and wasting of the skeletal or voluntary muscles. Most of these diseases are inherited. Duchenne muscular dystrophy is the most common and occurs in 1 of every 3,000 male births (Bach, 1999). The pathologic fea-tures include degeneration and loss of muscle fibers, variation in muscle fiber size, phagocytosis and regeneration, and replacement of muscle tissue by connective tissue. The common characteris-tics of these diseases include varying degrees of muscle wasting and weakness, abnormal elevation in blood muscle enzymes, and myopathic findings on EMG and muscle biopsy (Bach, 1999). The differences center on the pattern of inheritance, the muscles involved, the age of onset, and the rate of progression. The unique needs of these patients, who in the past did not live to adulthood, must be addressed as they live longer as a result of better supportive care (Carson & Hieber, 2001).

Medical Management

Treatment of the muscular dystrophies at this time focuses on sup-portive care and preventing complications in the absence of a cure or specific pharmacologic interventions (Bach, 1999; Carson & Hieber, 2001). Supportive management aims to keep the patient active and functioning as normally as possible and to minimize functional deterioration. An individualized therapeutic exercise program is prescribed to prevent muscle tightness, contractures, and disuse atrophy. Night splints and stretching exercises are used  to delay contractures of the joints, especially the ankles, knees, and hips. Braces may compensate for muscle weakness.

Spinal deformity is a severe problem. Weakness of trunk mus-cles and spinal collapse occur almost routinely in patients with severe neuromuscular disease. In the battle against spinal defor-mity, the patient is fitted with an orthotic jacket to improve sitting stability and reduce trunk deformity. This measure also supports cardiovascular status. In time, spinal fusion is performed to main-tain spinal stability. Other procedures may be carried out to cor-rect deformities.

Compromised pulmonary function may be due either to pro-gression of the disease or to deformity of the thorax secondary to severe scoliosis. Intercurrent illnesses, upper respiratory infec-tions, and fractures from falls must be vigorously treated in a way that minimizes immobilization because joint contractures be-come worse when the patient’s activities are more restricted than usual.

Other difficulties may be manifested in relation to the under-lying disease. Dental and speech problems may result from weak-ness of the facial muscles, which makes it difficult to attend to dental hygiene and to speak coherently. Gastrointestinal tract problems may include gastric dilation, rectal prolapse, and fecal impaction. Finally, cardiomyopathy appears to be a common complication in all forms of muscular dystrophy.

Genetic counseling is advised for parents and siblings of the patient because of the genetic nature of this disease. The Muscular Dystrophy Association works to combat neuromuscular disease through research, programs of patient services and clinical care, and professional and public education.

Nursing Management

The goals of the patient and the nurse are to maintain function at optimal levels and to enhance the quality of life. Therefore, the patient’s physical requirements, which are considerable, are ad-dressed without losing sight of emotional and developmental needs (Carson & Hieber, 2001). The patient and family are actively involved in decision-making, including end-of-life decisions.

During hospitalization for treatment of complications, the knowledge and expertise of the patient and family members re-sponsible for caregiving in the home are assessed. Because the patient and family caregivers often have developed caregiving strategies that work effectively for them, these strategies need to be acknowledged and accepted, and provisions must be made to ensure that they are maintained during hospitalization (Carson & Hieber, 2001).

Families of chronically ill individuals often need assistance to shift the focus of care from pediatric to adult care. Nursing goals include assisting the person with a chronic condition to make the transition to adult values and expectations while providing age-appropriate ongoing care (Carson & Hieber, 2001). The nurse may need to help build the confidence of an older adolescent or adult patient by encouraging him or her to pursue job training to become economically independent. Other nursing interventions might include guidance in accessing adult health care and finding appropriate programs in sex education (Carson & Hieber, 2001).

PROMOTING HOME AND COMMUNITY-BASED CARE

Teaching Patients Self-Care.

The management goals are ad-dressed in special rehabilitation programs or in the patient’s home and community (Natterlund & Ahlstrom, 1999). Thus, the patient and family require information and instruction about the disorder, its anticipated course, and care and management strate-gies that will optimize the patient’s growth and development and physical and psychological status. Members of a variety of health-related disciplines are involved in patient and family teaching; recommendations are communicated to all members of the health care team so that they may work toward common goals.

Continuing Care.

Both the neuromuscular disease and the asso-ciated deformities may progress in adolescence and adulthood. Self-help and assistive devices can aid in maintaining maximum independence. Additional self-help devices, recommended by physical and occupational therapists, often become necessary as more muscle groups are affected.

The family is taught to monitor the patient for respiratory problems, as respiratory infection and cardiac failure are the most common causes of death (Carson & Hieber, 2001). As respira-tory difficulties develop, patients and their families need infor-mation regarding respiratory support. Options currently exist that can provide ventilatory support (negative-pressure devices, positive-pressure ventilators) while allowing mobility (Bach, 1999). Patients can remain relatively independent in a wheelchair, for example, while being maintained on a ventilator at home for many years.

The patient is encouraged to continue with range-of-motion exercises to prevent contractures, which are particularly disabling. Practical adaptations must be made, however, to cope with the effects of chronic neuromuscular disability. The patient at vari-ous stages of the disease may require a manual or an electric wheelchair, gait aids, upper and lower extremity and spinal or-thoses, seating systems, bathroom equipment, lifts, ramps, and additional assistive devices, all of which require a team approach (Bach, 1999). The home care nurse assesses how the patient and family are managing, makes referrals, and coordinates the activi-ties of the physical therapist, occupational therapist, and social services.

Of great concern to the patient are the issues surrounding the threat of increasing disability and dependence on others, accom-panied by a significant deterioration in health-related quality of life (Natterlund, Gunnarsson & Ahlstrom, 2000). The patient is faced with a progressive loss of function, leading eventually to death. Feelings of helplessness and powerlessness are common. Each functional loss is accompanied by grief and mourning. The patient and family are assessed for depression, anger, or denial. The patient and family are assisted to address decisions about end-of-life options before their need arises.

A psychiatric nurse clinician or other mental health profes-sional may assist the patient to cope and adapt to the disease. By understanding and addressing the physical and psychological needs of the patient and family, the nurse provides a hopeful, supportive, and nurturing environment.