Screening and Managing Comorbidities for Patients With Duchenne Muscular Dystrophy

EP: 1.Navigating Duchenne Muscular Dystrophy: An Early-Childhood Case Example

EP: 2.The Critical Role of Dystrophin in the Pathophysiology of Duchenne Muscular Dystrophy

EP: 3.Newborn Screening and Primary Care Awareness for Timely Referral

EP: 4.Early Recognition of Duchenne Muscular Dystrophy: Key Signs Across Developmental Domains

EP: 5.Navigating the Heterogeneous Progression of Duchenne Muscular Dystrophy

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EP: 6.Screening and Managing Comorbidities for Patients With Duchenne Muscular Dystrophy

EP: 7.Bridging the Gaps in Duchenne Muscular Dystrophy: Multidisciplinary Approaches for Better Outcomes

EP: 8.Navigating the Complexities of Adolescent Duchenne Muscular Dystrophy

EP: 9.Understanding the Causes of Duchenne Muscular Dystrophy

EP: 10.An Overview on The Root Causes of Duchenne Muscular Dystrophy

EP: 11.The Impact of Dystrophin Levels on Duchenne Muscular Dystrophy Progression

EP: 12.The Role of Gene Therapy for Patients with Duchenne Muscular Dystrophy

EP: 13.The Importance of Early Intervention in Duchenne Muscular Dystrophy

EP: 14.Case 2 Overview: Patient at 16 with Duchenne Muscular Dystrophy

EP: 15.Considering New Duchenne Muscular Dystrophy Therapies: Exon Skipping and Gene Therapy

EP: 16.Expert Perspectives on The Importance of Multidisciplinary Care for Patients With Duchenne Muscular Dystrophy

EP: 17.The Future of Duchenne Muscular Dystrophy Treatment: Expert Insights on Gene Therapy

Summary for Physicians

Common Comorbidities in Duchenne Muscular Dystrophy (DMD)
Patients with DMD patients often experience a wide range of comorbidities that require ongoing monitoring and management. These include the following:

1. Cognitive and Behavioral Issues
   1. Affects around 1/3 of patients, presenting as autism, attention-deficit/hyperactivity disorder, learning difficulties, and behavioral challenges.
2. Ophthalmologic Concerns
   1. Annual ophthalmology checkups are recommended due to the risk of cataracts from steroid use.
3. Swallowing and Respiratory Issues
   1. Difficulty in swallowing develops later, but respiratory muscle weakness (diaphragm and intercostal muscles) can cause restrictive lung disease and obstructive sleep apnea.
4. Cardiac Issues
   1. Cardiomyopathy can be detected early, with studies showing changes in cardiac MRI at 10 years old or younger in 17% of patients.
5. Gastrointestinal and Urinary Complications
   1. Common issues include reflux, constipation, urinary urgency, and retention, with kidney stones also a concern in adults due to low water intake.
6. Orthopedic Problems
   1. Patients often develop contractures (ankles, knees, hips, elbows, hands) and scoliosis, though the latter is less common due to steroid use. Some patients may still develop scoliosis in adulthood, requiring surgery.
7. Psychological Problems
   1. Depression, anxiety, and obsessive-compulsive disorder behaviors are common in this population.

Comorbidity Screening Approach
A multidisciplinary approach is crucial for effective care, focusing on early detection and management:

1. Neurological Screening
   1. As a neurologist, I screen for motor and cognitive issues and make referrals to specialists when needed (e.g.eg, gastroenterologists, endocrinologists).
2. Cardiological Monitoring
   1. Regular electrocardiograms, echocardiograms, and cardiac MRIs are essential. Early intervention with medications can prevent cardiac deterioration.
3. Pulmonary Function Testing
   1. Pulmonologists and respiratory therapists perform pulmonary function tests, which are most reliable after 5 years of age.
4. Nutrition Support
   1. Nutritionists monitor and manage obesity (a significant issue due to steroids) by promoting a low-carb, low-fat, low-sugar diet and providing vitamin D and B12 supplements. Regular lab work includes lipid profiles and vitamin testing.
5. Physical and Occupational Therapy
   1. Standardized tests, such as North Star and 10-meter walk/run, help track motor function and progression, guiding equipment needs.