Learning Objectives
By the end of this section, you will be able to:
- Discuss the pathophysiology, risk factors, and clinical manifestations for muscular dystrophy
- Describe the diagnostics and laboratory values of muscular dystrophy
- Apply nursing concepts and plan associated nursing care for patients with muscular dystrophy
- Evaluate the efficacy of nursing care for patients with muscular dystrophy
- Describe the medical therapies that apply to the care of muscular dystrophy
A muscular dystrophy (MD) is a rare genetic disorder that causes progressive muscle weakness over time (Figure 13.15). With over 30 specific types, MD has a wide range of variability in terms of age of diagnosis, severity, and affected muscles. However, all types are progressive, meaning they get more severe over time. Some of the more common types are briefly described in Table 13.4. In most cases, individuals diagnosed with MD will eventually be unable to walk and perform their own ADLs such as toileting or bathing.
| Type | Description |
|---|---|
| Duchenne muscular dystrophy (DMD) |
|
| Becker muscular dystrophy (BMD) |
|
| Myotonic dystrophy |
|
| Facioscapulohumeral muscular dystrophy (FSHD) |
|
| Limb-girdle muscular dystrophy (LGMD) |
|
Life-Stage Context
Muscular Dystrophy Diagnosis During Childhood
Most MDs are diagnosed during childhood, which increases the complexity of the disorder. The parents or caregivers of the child will be tasked with providing most of the care to the child in the home setting, highlighting the need for adequate education and training. Additionally, caregivers will likely need emotional support, as receiving a devastating diagnosis for their child can be life-altering. Nurses must not only treat the patient but also consider the needs of the parents and other involved caregivers and family members, such as siblings or grandparents.
Pathophysiology
The underlying pathophysiology of MD is caused by genetic mutations, either inherited or spontaneous. In most cases, the mutation that causes MD is inherited, meaning that it came from one or both parents. Though the specific pathophysiologic mechanism is still somewhat unknown, the mutation negatively affects muscle function, resulting in the degeneration of muscle fibers, decreased muscle mass, and progressive muscle weakness over time.
Clinical Manifestations
Clinical manifestations of MD vary depending on the specific type, but some of the more common findings include
- loss of reflexes,
- abnormal gait,
- frequent falls or clumsiness,
- difficulty standing from a sitting position or climbing stairs,
- posture changes,
- muscle weakness and atrophy,
- contractures,
- an abnormally curved spine, known as scoliosis,
- impaired breathing,
- enlarged calves, and
- inability to open or close the eyes.
Because most MDs are diagnosed in childhood, it is often the child’s parents who notice the first signs that may indicate a muscular problem. Parents often report that their child is unable to run or jump, is “toe walking,” falls frequently, or has trouble standing up from a sitting position on the floor.
Assessment and Diagnostics
The first step in diagnosing MD involves a thorough review of the patient’s medical history. It is especially important to assess the patient’s family history, as many MDs are known to be genetically inherited. Additionally, a comprehensive physical examination may reveal clinical manifestations associated with MD, including muscle weakness, abnormal gait, or posture changes.
Diagnostics and Laboratory Values
Because MD often occurs secondary to genetic mutations, genetic testing is one of the most definitive diagnostic tests for the condition. In some cases, muscle biopsies can be conducted to examine muscle tissue more closely for signs of the condition. Beyond genetic testing and muscle biopsies, there are no diagnostic tests specific to MD, but several other laboratory and diagnostic tests can be used to assist in making the diagnosis (Table 13.5).
| Diagnostic Test | Expected Finding with Muscular Dystrophy |
|---|---|
| Serum creatine kinase (CK) | CK may be elevated due to muscle breakdown and damage. |
| Electrocardiogram (ECG) | Heart function may be altered or arrythmias may be present, especially in myotonic dystrophy. |
| Electromyography (EMG) | Changes in the pattern of muscular electrical activity may indicate a muscular disorder such as MD. |
| Pulmonary function tests (PFTs) | In more severe cases, PFTs reveal a suboptimal functioning of the lungs due to diaphragmatic muscle weakness. |
Nursing Care of the Patient with Muscular Dystrophy
Most of the nursing care for patients with MD centers around maintaining the highest quality of life possible and minimizing the negative effects associated with progressive muscle weakness. While there is no definitive cure for MD, many nursing interventions seek to address specific challenges associated with muscle weakness, mobility issues, and potential complications (LaPelusa et al., 2024).
Recognizing Cues and Analyzing Cues
Because most cases of MD are diagnosed in childhood, it is often the parents who notice muscle abnormalities and bring in their children for further assessment and diagnosis. It is important for the nurse to communicate effectively with the parents and allow them to fully express their feelings and concerns. In addition to the information provided by the parents, the nurse will conduct a full physical assessment to determine if the child is exhibiting symptoms consistent with MD or a similar disorder. Cues that would indicate the child may have MD include an abnormal gait, muscle weakness, contractures, and an inability to stand from a sitting position.
Prioritizing Hypotheses, Generating Solutions, and Taking Action
Most of the nursing interventions for patients with MD center around maintaining muscle function and slowing the progression of the disorder. These interventions include
- assisting with ADLs as needed,
- promoting as much independence as possible,
- helping with range of motion (ROM) exercises,
- alternating rest and activity periods to combat fatigue and muscle weakness,
- teaching deep breathing and relaxation techniques,
- implementing fall-risk precautions as needed,
- providing emotional support and teaching patient positive coping skills, and
- coordinating care with other members of the health-care team, including physical and occupational therapists.
Evaluation of Nursing Care for the Patient with Muscular Dystrophy
Though MD is progressive, medical and nursing interventions can help slow the trajectory of the disorder. The nurse will need to evaluate the interventions to determine if the plan of care should be revised to ensure optimal patient outcomes.
Evaluating Outcomes
When evaluating outcomes for the patient with MD, the nurse will look for specific findings indicating the interventions have been successful. These findings include
- improved muscle strength,
- normal cardiac rhythm,
- adequate oxygenation status, and
- positive coping skills.
Medical Therapies and Related Care
There is no cure for MD, but some treatments may help with symptom relief. In many cases, long-term corticosteroids are used to help maintain muscle strength for as long as possible. However, the side effects of steroids include weight gain, weakened bones, and a decrease in immune function, all of which can be detrimental to the health of the patient. In these cases, the benefits of using long-term steroids must be weighed against the risks.
In recent years, several new medications have been developed specifically for the treatment of MD. One of these medications, eteplirsen (Exondys 51), works by targeting the specific genetic mutations that cause MD. In addition to these medications, patients with MD who have experienced heart damage may also require treatment with cardiac medications such as angiotensin-converting enzyme inhibitors (ACEIs) or beta blockers. Beyond pharmacological interventions, patients with MD also require therapy to prolong muscle function for as long as possible. Therapy interventions to prolong muscle function include
- physical and occupational therapy,
- ROM exercises,
- low-impact aerobic exercise (e.g., swimming, walking),
- braces, and
- mobility aids (e.g., canes, walkers, wheelchairs).
For patients with cardiac or respiratory issues secondary to MD, use of a ventilator or insertion of a pacemaker may eventually be required.
Interdisciplinary Plan of Care
Interdisciplinary Care for Patients with MD
Nurses work with an interdisciplinary team and coordinate care for patients with MD.
- The provider orders the treatment plan, including medications and any specialty referrals needed to manage the patient’s care.
- The nurse implements the provider’s orders and educates the patient about their condition.
- The respiratory therapist provides set-up, maintenance, and instructions for any pulmonary machines, such as a sleep apnea or ventilator; they also educate the patient on pulmonary exercises, such as incentive spirometer, and breathing treatments.
- The case manager coordinates ancillary departments needed for a comprehensive plan of care, such as wound care or nutrition; they also coordinate resources and follow-up for the family once the patient is discharged.