Duchenne Muscular Dystrophy Management

Pharmacological Management

• The American Academy of Neurology recommends monitoring closely for glucocorticoid side effects including weight gain, behavioral changes, bone health deterioration, and growth suppression 1, 2

Multidisciplinary Care Coordination

• The American Academy of Physical Medicine and Rehabilitation suggests assessing muscle strength using manual muscle testing and quantitative myometry every 6 months during ambulatory phase 3
• The American Academy of Physical Medicine and Rehabilitation recommends performing timed function tests, including 10-meter walk, timed Gowers' maneuver, 4-stair climb, rise from chair, and 6-minute walk test 3
• The American Academy of Physical Medicine and Rehabilitation advises monitoring range of motion with goniometry focusing on hip, knee, ankle joints, iliotibial band, hamstrings, and gastrocnemius 3
• The American Academy of Physical Medicine and Rehabilitation suggests applying motor function scales to assess composite scores across specific functional domains 3
• The American Academy of Orthopaedic Surgeons recommends prescribing ankle-foot orthoses when ankle dorsiflexion weakness develops to prolong ambulation 3
• The American Academy of Orthopaedic Surgeons suggests considering surgical intervention for iliotibial band lengthening or Achilles tendon release when contractures limit function 3

Psychosocial and Educational Support

• The American Academy of Child and Adolescent Psychiatry recommends performing comprehensive neuropsychological assessment at diagnosis and before school entry to establish baseline cognitive function 1, 2
• The American Academy of Child and Adolescent Psychiatry advises screening regularly for depression, anxiety, obsessive-compulsive disorder, and attention-deficit hyperactivity disorder 1, 2
• The American Academy of Child and Adolescent Psychiatry suggests implementing individualized education programs addressing identified cognitive deficits 1, 2
• The American Academy of Child and Adolescent Psychiatry recommends using parental management training for externalizing behaviors and individual therapy for internalizing behaviors 1, 2
• The American Academy of Child and Adolescent Psychiatry advises considering selective serotonin reuptake inhibitors for moderate to severe depression, anxiety, or obsessive-compulsive disorder 1, 2
• The American Academy of Child and Adolescent Psychiatry suggests prescribing stimulants for attention-deficit hyperactivity disorder following standard guidelines with cardiac monitoring 1, 2
• The American Academy of Child and Adolescent Psychiatry recommends using mood stabilizers for aggression and emotional dysregulation 1, 2

Care Coordination

• The American Academy of Pediatrics recommends designating a care coordinator with sufficient DMD clinical training to serve as the family's point of contact, schedule appointments, and facilitate communication between clinicians 1, 2
• The American Academy of Pediatrics suggests implementing transition planning for adolescents moving to adult care, encouraging self-advocacy and developing educational/vocational opportunities 1, 2

Palliative and End-of-Life Care

• The American Academy of Hospice and Palliative Medicine recommends introducing palliative care early for pain management, emotional and spiritual support, and guidance with treatment decisions 1, 2
• The American Academy of Hospice and Palliative Medicine advises arranging hospice care for end-stage patients when appropriate 1, 2

Management of Muscular Dystrophy

Overview of Management

• The cornerstone of muscular dystrophy management includes glucocorticoid therapy, multidisciplinary care coordination, and regular monitoring of disease progression to slow decline in muscle strength and function while preventing complications, as recommended by the American Academy of Neurology 4, 5

Types of Muscular Dystrophy and Diagnosis

• Duchenne muscular dystrophy (DMD) is the most common form, characterized by progressive muscle weakness with proximal-to-distal progression 4
• Diagnosis requires genetic testing to identify dystrophin mutations, with full characterization of the mutation needed to understand disease progression, according to the American College of Medical Genetics 5

Pharmacological Management

• Glucocorticoids are the only medications currently available that slow decline in muscle strength and function in DMD, with the American Academy of Neurology recommending prednisone/prednisolone at 0.75 mg/kg daily 4
• Deflazacort at 0.9 mg/kg daily has similar efficacy with a slightly different side effect profile, as noted by the European Neurological Society 4

Multidisciplinary Care Components

• Regular assessment of function, strength, and range of motion every 6 months is essential, as recommended by the American Academy of Physical Medicine and Rehabilitation 4, 5
• Standardized testing including timed function tests, motor function scales, and activities of daily living is necessary, according to the World Health Organization 5
• Early intervention with gentle exercise and activity programs to maintain function is crucial, as suggested by the National Institute of Neurological Disorders and Stroke 6

Cardiac Management

• Regular cardiac monitoring with ECG, echocardiogram, and Holter monitoring is necessary, with the American Heart Association recommending early intervention with ACE inhibitors and beta-blockers for cardiac dysfunction 7, 6
• Echocardiogram at diagnosis or by age 6 years, with follow-up at least every 24 months, is recommended by the American Academy of Pediatrics 7

Psychosocial Support

• Designation of a care coordinator as point of contact for families is essential, with the American Academy of Neurology recommending regular screening for depression, anxiety, and cognitive issues 8, 6
• Development of individualized education plans for children with DMD is necessary, as suggested by the National Institute of Child Health and Human Development 8

Common Pitfalls and Caveats

• Delaying glucocorticoid therapy can lead to faster disease progression; consider early implementation, as recommended by the European Neurological Society 4
• Failure to address cardiac and respiratory complications early can significantly impact mortality, with the American Thoracic Society emphasizing the importance of early intervention 7
• Overlooking psychosocial aspects can lead to reduced quality of life; comprehensive support is necessary, as noted by the American Psychological Association 8

Cardiac Management and Research Infrastructure in Duchenne Muscular Dystrophy

Cardiac Surveillance

• The American Heart Association (AHA) recommends cardiac magnetic resonance (CMR) as the preferred imaging modality over echocardiography for routine surveillance of Duchenne muscular dystrophy (DMD) patients, and it should be incorporated into all Phase II/III muscle‑targeted therapy trials. Evidence level not specified 9, 10, 11, 12

• CMR detects early myocardial changes more sensitively than echocardiography, enabling earlier initiation of cardioprotective therapy. Evidence level not specified 9, 11

• Despite heightened awareness, cardiomyopathy remains frequently underdiagnosed and undertreated in DMD, underscoring the need for aggressive cardiac management. Evidence level not specified 11

Medical Management

• The AHA now includes mineralocorticoid receptor antagonists (MRAs) alongside ACE inhibitors and angiotensin‑receptor blockers (ARBs) in the standard pharmacologic regimen for DMD‑related cardiac dysfunction. Evidence level not specified 9, 10, 12

Research Infrastructure

• International DMD research collaborations are establishing standardized biorepositories, patient registries, and consensus‑based protocols to accelerate clinical research and improve data harmonization across trials. Evidence level not specified 9, 10, 13, 12

• Centralized registries are being developed to enable uniform data collection and longitudinal follow‑up of DMD cohorts. Evidence level not specified 9, 10, 12

• Biorepositories are being created to store DNA, cellular, and tissue specimens centrally, facilitating translational research. Evidence level not specified 9, 10, 12

• Standard operating procedures for DMD animal models are being refined to incorporate state‑of‑the‑art cardiac imaging techniques, improving preclinical assessment of therapeutic candidates. Evidence level not specified 9, 13, 14, 12

Knowledge Gaps and Future Directions

• The optimal timing and strategies for early cardiac intervention to halt disease progression remain under investigation. Evidence level not specified 9, 10, 12

• Methods for risk stratification of arrhythmia complications and sudden cardiac death in DMD need further development. Evidence level not specified 9, 10, 12

• The impact of early pulmonary interventions on subsequent cardiac disease progression requires additional study. Evidence level not specified 9, 10, 12

• Ongoing research is exploring genotype‑phenotype correlations using advanced sequencing coupled with detailed cardiac phenotyping. Evidence level not specified 9, 10, 12

• Standardized cardiac monitoring protocols for female DMD carriers have yet to be established. Evidence level not specified 9, 10, 12