What is the treatment for Duchenne muscular dystrophy?

Treatment of Duchenne Muscular Dystrophy

Glucocorticoids are the cornerstone of pharmacological treatment for DMD, with prednisone/prednisolone at 0.75 mg/kg daily or deflazacort at 0.9 mg/kg daily being the only medications proven to slow decline in muscle strength and function. 1

Pharmacological Management

Primary Disease-Modifying Therapy

• Initiate glucocorticoid therapy early (ideally when motor function plateaus, typically around age 4-6 years) to maximize benefit on muscle strength, function, and delay loss of ambulation 1
• Prednisone/prednisolone 0.75 mg/kg daily is the standard regimen 1
• Deflazacort 0.9 mg/kg daily offers similar efficacy with a slightly different side effect profile (potentially less weight gain but more cataracts) 1
• Monitor closely for glucocorticoid side effects including weight gain, behavioral changes, bone health deterioration, and growth suppression 2

Emerging Genetic Therapies

• Exon-skipping agents (eteplirsen, golodirsen, viltolarsen) are mutation-specific therapies that produce a shorter but partially functional dystrophin protein 3, 4
• Gene transfer therapy using adeno-associated virus (AAV) vectors is under investigation and shows promise for restoring dystrophin expression 3, 4
• These therapies have clinical advantages over corticosteroids alone as they address the underlying genetic defect 3

Multidisciplinary Care Coordination

Neuromuscular Monitoring

• Assess muscle strength using manual muscle testing (MRC scale) and quantitative myometry every 6 months during ambulatory phase 2, 1
• Perform timed function tests: 10-meter walk, timed Gowers' maneuver, 4-stair climb, rise from chair, and 6-minute walk test 2
• Monitor range of motion with goniometry focusing on hip, knee, ankle joints, iliotibial band, hamstrings, and gastrocnemius 2
• Apply motor function scales to assess composite scores across specific functional domains 2

Cardiac Management

• Obtain baseline echocardiogram at diagnosis or by age 6 years, whichever comes first 1
• Repeat echocardiogram at least every 24 months, more frequently if abnormalities detected 1
• Perform annual ECG and consider Holter monitoring for arrhythmia detection 1
• Initiate ACE inhibitors and beta-blockers early when cardiac dysfunction is detected, as this significantly impacts mortality 1

Respiratory Management

• Begin monitoring pulmonary function when patient can cooperate with testing (typically age 5-6 years) 5
• Assess for nocturnal hypoventilation and consider non-invasive ventilation when forced vital capacity falls below 50% predicted or symptoms of sleep-disordered breathing emerge 5
• Implement assisted cough techniques and mechanical insufflation-exflation devices to maintain airway clearance 5

Rehabilitation Services

• Provide physical and occupational therapy assessments every 4 months to maintain function and prevent contractures 1
• Implement gentle exercise and activity programs that avoid eccentric contractions and overwork weakness 1
• Prescribe ankle-foot orthoses when ankle dorsiflexion weakness develops to prolong ambulation 2
• Consider surgical intervention for iliotibial band lengthening or Achilles tendon release when contractures limit function 2

Psychosocial and Educational Support

Cognitive and Behavioral Management

• Perform comprehensive neuropsychological assessment at diagnosis and before school entry to establish baseline cognitive function 2
• Screen regularly for depression, anxiety, obsessive-compulsive disorder, and attention-deficit hyperactivity disorder 2, 1
• Implement individualized education programs addressing identified cognitive deficits 2

Psychiatric Interventions When Needed

• Use parental management training for externalizing behaviors (noncompliance, disruptive behavior, parent-child conflict) 2
• Provide individual therapy for internalizing behaviors (low self-esteem, depression, anxiety, adjustment difficulties) 2
• Consider selective serotonin reuptake inhibitors for moderate to severe depression, anxiety, or obsessive-compulsive disorder 2
• Prescribe stimulants for attention-deficit hyperactivity disorder following standard guidelines with cardiac monitoring 2
• Use mood stabilizers for aggression and emotional dysregulation 2

Care Coordination

• Designate a care coordinator with sufficient DMD clinical training to serve as the family's point of contact, schedule appointments, and facilitate communication between clinicians 2, 1
• Arrange routine multidisciplinary clinic visits every 6 months 1
• Implement transition planning for adolescents moving to adult care, encouraging self-advocacy and developing educational/vocational opportunities 2, 1

Palliative and End-of-Life Care

• Introduce palliative care early for pain management, emotional and spiritual support, and guidance with treatment decisions 2, 1
• Palliative care teams assist families in clarifying treatment goals, facilitate communication with medical teams, and address grief, loss, and bereavement issues 2
• Arrange hospice care for end-stage patients when appropriate 2

Critical Pitfalls to Avoid

• Delaying glucocorticoid initiation leads to faster disease progression and earlier loss of ambulation 1
• Failing to monitor cardiac function regularly results in missed opportunities for early intervention that significantly impacts survival 1
• Overlooking psychosocial needs reduces quality of life despite optimal medical management 1
• Inadequate attention to respiratory complications in later stages contributes substantially to mortality 1