duchene muscular dystrophy - Nursing Case Study

Pathophysiology

• Primary mechanism: Duchenne Muscular Dystrophy (DMD) is caused by mutations in the DMD gene, leading to the absence of dystrophin, a crucial protein that helps stabilize and protect muscle fibers during contraction.

• Secondary mechanism: Without dystrophin, muscle fibers are easily damaged, resulting in cycles of muscle degeneration and incomplete repair, which over time leads to muscle weakness and wasting.

• Key complication: Progressive muscle damage also affects respiratory and cardiac muscles, leading to complications such as respiratory failure and cardiomyopathy, impacting overall patient health and mobility.

Patient Profile

Demographics:

8-year-old male, elementary school student

History:

• Key past medical history: Diagnosed with Duchenne muscular dystrophy at age 5

• Current medications: Prednisone 5 mg daily

• Allergies: No known drug allergies

Current Presentation:

• Chief complaint: Difficulty keeping up with peers during physical activities

• Key symptoms: Mild muscle weakness, occasional falls, difficulty climbing stairs

• Vital signs: Temperature 98.6°F, Heart rate 90 bpm, Respiratory rate 18 breaths per minute, Blood pressure 105/70 mmHg

Section 1

Initial Assessment Findings:

During the initial assessment, the nursing team conducted a thorough evaluation of the 8-year-old patient to monitor the progression of his Duchenne muscular dystrophy and to address his current complaints. The assessment revealed that the patient exhibits mild, generalized muscle weakness, particularly noticeable in the proximal muscles of the legs and arms. He demonstrates a mild Gowers' sign, using his hands to push off his thighs to rise from the floor, an indicator of proximal muscle weakness. While walking, there is a slight waddling gait observed, which is consistent with early-stage DMD.

His developmental milestones are appropriate for his age, though there are slight delays in gross motor skills due to muscle weakness. Despite these challenges, the patient remains active and engaged at school, participating in activities to the best of his ability. Cognitive assessment shows no impairments, and he is doing well academically. His respiratory assessment reveals clear lung sounds bilaterally, with no signs of respiratory distress. On cardiac auscultation, there are no murmurs or abnormal heart sounds detected, and his heart rate remains within normal limits for his age. Overall, while the patient experiences difficulties with physical activities, his clinical presentation is stable, and he shows resilience in adapting to his limitations.

These findings provide the nursing team with a baseline to monitor the patient's condition and evaluate the effectiveness of interventions such as physical therapy and medication management. Ongoing assessment and collaboration with the healthcare team will ensure that any changes in his condition are promptly addressed, focusing on maintaining mobility, preventing complications, and supporting his quality of life as he continues his journey with Duchenne muscular dystrophy.

Section 2

Response to Interventions

Following the initial assessment, the nursing team implemented a comprehensive care plan tailored to the patient's needs, focusing on maintaining mobility and preventing complications associated with Duchenne muscular dystrophy. The patient was enrolled in a physical therapy program designed to strengthen his proximal muscles and enhance his range of motion. After four weeks of consistent therapy, the patient shows slight improvements in muscle strength. He is now able to rise from the floor with reduced reliance on his hands, indicating a positive response to the physical therapy regimen. His gait remains slightly waddling, but he demonstrates increased endurance during physical activities at school.

In addition to physical therapy, the patient has been started on a corticosteroid regimen, commonly used to slow muscle degeneration in DMD patients. Regular monitoring of his vital signs and weight is conducted to detect any potential side effects. Recent check-ups reveal stable vital signs: a heart rate of 88 beats per minute, respiratory rate of 20 breaths per minute, and blood pressure of 100/65 mmHg, all within normal limits for his age. His weight remains consistent, and there are no signs of significant weight gain or growth delays, suggesting a well-tolerated medication regimen thus far.

The care plan also emphasizes the importance of a balanced diet and adequate hydration, with the family receiving nutritional counseling to support the patient's overall health. The patient’s family, actively involved in his care, reports that he is enjoying his meals and staying well-hydrated. The nursing team continues to educate the family on monitoring for any new symptoms or complications, ensuring they feel confident in managing his condition at home. Overall, the current interventions are contributing positively to the patient's stability and quality of life, setting a solid foundation for ongoing management of his condition.

Section 3

New Complications

As the patient continues his journey with Duchenne muscular dystrophy, the nursing team remains vigilant for any new complications. During a routine follow-up visit, the patient's parents express concerns about occasional shortness of breath and increased fatigue, particularly after engaging in physical activities at school. This prompts the nursing team to conduct a thorough assessment and review his current condition.

Upon examination, the patient's vital signs remain stable, but a slight decrease in oxygen saturation is noted, with levels occasionally dropping to 94% on exertion, compared to his baseline of 98-99%. Breath sounds are clear, but there is a mild reduction in respiratory effort. The team decides to perform a pulmonary function test, which reveals a slight decline in respiratory capacity, consistent with early-stage respiratory muscle involvement in DMD. Despite these changes, the patient maintains a cheerful demeanor and continues to participate in most of his daily activities with enthusiasm.

In response to these findings, the care plan is adjusted to incorporate respiratory therapy sessions aimed at strengthening the intercostal muscles and improving lung function. The family is educated on the importance of respiratory exercises and encouraged to keep a close watch on any signs of respiratory distress. The patient is also provided with a portable pulse oximeter to monitor oxygen levels during activities. These steps are intended to address the emerging respiratory challenges while maintaining the patient's overall quality of life. Through proactive management, the nursing team aims to mitigate complications and support the patient's long-term health and well-being.

Section 4

Response to Interventions

Following the implementation of the revised care plan, the patient begins attending respiratory therapy sessions twice a week. Over the next few weeks, the nursing team closely monitors his progress. During these sessions, the patient is taught various breathing exercises, such as diaphragmatic breathing and incentive spirometry, to enhance lung capacity and maintain respiratory muscle strength. The family also reports back on their home practice, noting that the patient is gradually becoming more comfortable with the exercises and even finds them to be engaging.

During a follow-up visit, the nursing team conducts a comprehensive assessment to evaluate the effectiveness of the interventions. The patient's vital signs continue to be stable, with his heart rate and blood pressure within normal limits. Notably, his oxygen saturation levels have shown improvement, averaging around 96-97% during physical activity. The patient reports feeling less fatigued and demonstrates an eagerness to participate in school activities. He mentions that the shortness of breath episodes have become less frequent, and when they do occur, they are less severe than before.

These positive outcomes are encouraging, and the nursing team praises the patient and his family for their dedication to the respiratory exercises. The team emphasizes the importance of maintaining these exercises as part of the patient's daily routine to sustain respiratory health. They also remind the family to continue monitoring the patient's oxygen levels with the portable pulse oximeter, especially during more strenuous activities. With these ongoing efforts and the support of his care team, the patient is well-positioned to manage his current respiratory challenges, allowing him to maintain a high quality of life while navigating the early stages of Duchenne muscular dystrophy.

Section 5

In a follow-up visit, the nursing team conducts a routine comprehensive assessment, paying particular attention to any signs of new complications or changes in the patient's condition. The patient presents with a slight increase in weight, which is within the expected range for his age and condition, suggesting good nutritional status. His growth chart shows a steady growth pattern, and his dietary intake continues to meet his nutritional needs, carefully monitored by the dietitian. The patient's skin remains intact, with no signs of pressure sores, indicating effective pressure relief strategies being employed at home.

However, during the assessment, the nurse notices a subtle change in the patient's gait. The patient reports occasional muscle cramps in his calves, particularly after extended periods of walking or standing, which could indicate the onset of muscle fatigue. The patient's mother also mentions that he has started to experience mild difficulty climbing stairs, a change from his previous level of mobility. These observations prompt the nursing team to recommend an evaluation by a physical therapist to assess for potential adjustments in his physical therapy regimen, aiming to optimize muscle function and prevent further decline.

The nursing team reassures the family that these changes are not uncommon in the progression of Duchenne muscular dystrophy and emphasizes the importance of continuing with the current exercise program while incorporating targeted interventions from physical therapy. They also discuss the possibility of introducing orthotic devices if needed to support the patient's mobility and reduce strain on his muscles. The family is encouraged to maintain open communication with the healthcare team to promptly address any concerns, ensuring the patient continues to receive comprehensive, proactive care. This approach aims to maintain his current level of function and delay the progression of symptoms, supporting his participation in everyday activities and enhancing his overall quality of life.