Management of Duchenne Muscular Dystrophy

Diagnosis

The American Academy of Neurology recommends suspecting DMD in male children with abnormal muscle function, increased serum creatine kinase, or unexplained elevated transaminases 3
The American Academy of Neurology confirms diagnosis through genetic testing for dystrophin mutations (deletions, duplications, point mutations) 4
If genetic testing is inconclusive, muscle biopsy showing absence of dystrophin protein may be necessary, as recommended by the American Academy of Neurology 4, 3
Full characterization of the mutation is essential for genetic counseling and consideration of mutation-specific therapies, according to the American Academy of Neurology 4

The American Academy of Neurology recommends initiating glucocorticoid therapy as the primary pharmacological intervention to slow disease progression 1
Regular assessments (at least every 6 months) of function, strength, and range of movement are recommended by the American Academy of Neurology to monitor disease progression 5
The American Academy of Neurology suggests using standardized testing methods including manual muscle testing, goniometry, and timed function tests to track progression 6

The American Academy of Physical Medicine and Rehabilitation recommends implementing preventive measures to maintain muscle extensibility and minimize contractures 1, 2
Encouraging appropriate exercise and activity based on disease stage is recommended by the American Academy of Physical Medicine and Rehabilitation 1, 2
Providing adaptive devices as needed to support function and participation is suggested by the American Academy of Physical Medicine and Rehabilitation 1, 2

The American Thoracic Society recommends monitoring respiratory function regularly with pulmonary function tests 7
Implementing airway clearance techniques and respiratory support as needed is recommended by the American Thoracic Society 7
Considering preoperative evaluation by pulmonologist before any surgical procedures is suggested by the American Thoracic Society 7
Screening for sleep-disordered breathing, particularly as disease progresses, is recommended by the American Thoracic Society 7, 8

The American Heart Association recommends performing echocardiogram at diagnosis or by age 6 years 1, 2
Scheduling cardiac evaluations every 24 months until age 10, then annually thereafter, is recommended by the American Heart Association 1, 2
Initiating standard heart failure interventions (ACE inhibitors, beta-blockers) with deterioration of function, even if asymptomatic, is suggested by the American Heart Association 1, 2, 5

The American Academy of Orthopaedic Surgeons recommends monitoring for development of scoliosis, particularly after loss of ambulation 7
Considering surgical intervention for scoliosis when Cobb angle reaches 30-50 degrees is suggested by the American Academy of Orthopaedic Surgeons 7
Evaluating for joint contractures, particularly in lower extremities (hip, knee, ankle), is recommended by the American Academy of Orthopaedic Surgeons 6
Considering surgical options for tendo-Achilles contractures in specific situations is suggested by the American Academy of Orthopaedic Surgeons 1, 2

The American Academy of Pediatrics recommends monitoring for normal weight gain appropriate for age 1, 2
Performing nutritional assessments for both overweight and underweight concerns is suggested by the American Academy of Pediatrics 1, 2
Evaluating for possible dysphagia, particularly in advanced stages, is recommended by the American Academy of Pediatrics 1, 2

The American Academy of Pediatrics recommends providing family support and early assessment/intervention for development, learning, and behavior 9, 10
Conducting comprehensive neurocognitive assessment at diagnosis and before entering formal schooling is suggested by the American Academy of Pediatrics 9, 10
Screening for autism spectrum disorders, speech/language delays, and other neurodevelopmental issues is recommended by the American Academy of Pediatrics 9, 10
Promoting independence and social development appropriate to disease stage is suggested by the American Academy of Pediatrics 9, 10
Planning for transition to adult services as the patient ages is recommended by the American Academy of Pediatrics 1, 2

The American Academy of Neurology recommends avoiding chiropractic manipulation due to risks associated with joint instability, progressive scoliosis, and respiratory compromise 8
Optimizing cardiac, nutritional, and respiratory status before any surgical procedures is suggested by the American Thoracic Society 7
Providing genetic counseling for at-risk female family members is recommended by the American Academy of Neurology 3