Treatment for Muscular Dystrophy

Pharmacological Management

• The American Academy of Neurology recommends glucocorticoid therapy as the cornerstone of treatment for Duchenne muscular dystrophy (DMD), with daily prednisone (0.75 mg/kg/day) or deflazacort (0.9 mg/kg/day) being the first-line treatments to slow disease progression and improve mortality and quality of life outcomes 1, 2
• Prednisone (0.75 mg/kg/day) is the first-line treatment unless pre-existing weight or behavioral issues favor deflazacort, as recommended by the American Academy of Neurology 1
• Deflazacort (0.9 mg/kg/day) should be considered as first-line when there are pre-existing weight or behavioral concerns, according to the American Academy of Neurology 1, 3
• Glucocorticoid therapy significantly slows decline in muscle strength and function, reduces risk of scoliosis, and stabilizes pulmonary function, with a moderate to high strength of evidence 2, 4

Respiratory Management

• Regular pulmonary function monitoring is essential, as recommended by the American Thoracic Society 5, 6
• Preoperative evaluation by pulmonologist at least 2 months before any surgery is recommended by the American Thoracic Society 5
• Assess for sleep hypoventilation with sleep studies or nocturnal oximetry, as recommended by the American Thoracic Society 5

Cardiac Management

• The American Heart Association recommends ACE inhibitors or ARBs to be initiated by 10 years of age (barring contraindications) 7
• β-adrenergic blockade should be considered after ACE inhibitor/ARB initiation, especially with ventricular dysfunction or elevated heart rate, as recommended by the American Heart Association 7

Orthopedic Management

• Surgical intervention for scoliosis should be considered when Cobb angle reaches 30-50 degrees, as recommended by the American Academy of Orthopaedic Surgeons 5
• No absolute pulmonary function contraindications for surgery; some patients with forced vital capacity (FVC) as low as 20% of predicted have had good outcomes, according to the American Academy of Orthopaedic Surgeons 5

Multidisciplinary Care

• Regular physical and occupational therapy assessments every 4 months are recommended by the American Academy of Physical Medicine and Rehabilitation 4
• Routine clinic appointments every 6 months are recommended by the American Academy of Neurology 4
• Emotional adjustment screening at every clinic visit is recommended by the American Academy of Child and Adolescent Psychiatry 8
• Comprehensive neuropsychological assessment at diagnosis is recommended by the American Academy of Child and Adolescent Psychiatry 8

Important Considerations and Caveats

• Complete immunization schedule before initiating glucocorticoids is recommended by the American Academy of Pediatrics 1
• Do not abandon glucocorticoid therapy without attempting dose reduction or alternative regimens first, as recommended by the American Academy of Neurology 8
• Supplements (coenzyme Q10, carnitine, amino acids, anti-inflammatories/anti-oxidants) lack sufficient evidence for recommendation, according to the American Academy of Neurology 8

Duchenne Muscular Dystrophy Treatment Guidelines

Pharmacological Management: Glucocorticoids

• The American Academy of Neurology recommends that glucocorticoids should not be started in children under 2 years who are still gaining motor skills, and should be initiated during the plateau phase (typically age 4-8 years) when motor skills stop progressing but before clear decline begins, to prolong ambulation and improve survival 9
• The American Academy of Neurology suggests that reducing risk of progressive scoliosis and need for spinal surgery is a benefit of glucocorticoid therapy, which should be initiated during the plateau phase (typically age 4-8 years) 9
• The American Academy of Neurology recommends that glucocorticoid therapy should be used to stabilize pulmonary function and delay need for noninvasive ventilation, and should be initiated during the plateau phase (typically age 4-8 years) 9
• Families should be provided with a steroid card listing emergency considerations for acute illness, fracture, infection, or need for surgery/anesthesia, and a high index of suspicion for steroid-related complications should be maintained at all times, according to the American Academy of Neurology 9

Management of DMD Gene-Positive Patients

Introduction to Treatment Phases

• The typical DMD patient continues making motor progress until approximately 4-6 years of age, albeit slower than peers, and this information is crucial for guiding treatment timing 10
• There are three phases to guide treatment timing: making progress phase, plateau phase (age 4-8 years), and decline phase, with the plateau phase being the optimal time to initiate therapy 10

Glucocorticoid Therapy

• Complete all recommended immunizations and establish varicella immunity before starting glucocorticoids, as recommended by The Lancet Neurology 10
• If side effects are unmanageable/intolerable, reduce dose by 25-33% and reassess in 1 month, according to The Lancet Neurology 11
• If obesity is concerning, switch from prednisone to deflazacort, as suggested by The Lancet Neurology 11
• Do not abandon glucocorticoid therapy until at least one dose reduction and change to alternative regimen has been attempted, as recommended by The Lancet Neurology 11

Multidisciplinary Monitoring and Support

• Emotional adjustment screening should be performed at every clinic visit using standardized rating scales, as recommended by The Lancet Neurology 11
• Comprehensive developmental assessment (≤4 years) or neuropsychological assessment (≥5 years) should be conducted at or near time of diagnosis and prior to entering formal schooling, according to The Lancet Neurology 11
• Screen emotional status at every clinic visit using standardized rating scales, which can be completed by a social worker, mental health professional, or trained clinical staff, as suggested by The Lancet Neurology 11

Supplements and Alternative Therapies

• Do not use supplements including coenzyme Q10, carnitine, amino acids, fish oil, vitamin E, or green tea extract—insufficient evidence exists for recommendation, as stated by The Lancet Neurology 11
• Oxandrolone (anabolic steroid) is not appropriate either with or without glucocorticoid therapy, according to The Lancet Neurology 11
• Botulinum toxin A has not been studied for safety in DMD and is inappropriate for contracture treatment/prevention, as recommended by The Lancet Neurology 11

Common Pitfalls to Avoid

• Starting glucocorticoids too early (before plateau phase in children under 4 years still gaining skills) can expose patients to unnecessary side effects without clear benefit, as warned by The Lancet Neurology 10
• Abandoning glucocorticoids prematurely due to side effects without attempting dose reduction or alternative regimens deprives patients of proven mortality and morbidity benefits, according to The Lancet Neurology 11
• Failing to provide steroid emergency card puts patients at risk during acute illness or surgical procedures, as recommended by The Lancet Neurology 10

Steroid Treatment Recommendations for Duchenne Muscular Dystrophy

Initiation Timing

• Glucocorticoid therapy should be started during the plateau phase of motor function (typically ages 4–8 years), when motor skills have stopped progressing but before a clear decline begins【12】【13】【14】.
• In the “making‑progress” phase (generally until age 4–6 years), steroids should not be initiated, especially in children < 2 years who are still gaining motor milestones【12】【13】.
• The plateau phase (age 4–8 years) is the optimal window for initiating therapy【12】【13】【15】.
• Initiation during the decline phase is still advised but yields more limited benefit; patients typically show slower timed test performance, loss of stair‑climbing ability, reduced endurance, and increased falls【12】【14】.

Prerequisites Before Starting Steroids

• All recommended immunizations must be completed according to the national schedule prior to steroid initiation【12】【13】【15】.
• Confirm varicella immunity with a protective serum titer before starting therapy【12】【16】.

First‑Line Dosing Regimens

• Daily prednisone at 0.75 mg/kg/day is a recommended first‑line regimen【13】.
• Daily deflazacort at 0.9 mg/kg/day is an alternative first‑line regimen【13】.
• Switching from prednisone to deflazacort is advised when obesity becomes a concern, because deflazacort is associated with less weight gain【13】.
• Deflazacort carries an approximate 30 % risk of asymptomatic cataracts【13】.

Continuation After Loss of Ambulation

• Glucocorticoid therapy should be continued after loss of ambulation to preserve upper‑limb strength, reduce scoliosis progression, and delay respiratory and cardiac decline【12】【17】【16】.
• Daily dosing remains indicated when the functional course is stable or declining【17】【16】.
• In non‑ambulatory patients, pre‑existing risk factors such as behavioral issues, fracture risk, or obesity must be carefully considered before continuing therapy【17】【16】.
• Abnormal echocardiograms or heart‑failure symptoms are not contraindications, although advanced cardiomyopathy may increase the risk of steroid‑related side effects【17】【16】.

Monitoring Requirements

Constitutional & Cosmetic

• Watch for Cushingoid appearance and obesity; implement proactive family‑wide dietary management, especially if any family members are overweight【17】【16】.
• Measure height at least every 6 months; refer for endocrine evaluation if growth plateaus【17】【16】.
• Assess Tanner stage for delayed puberty; consider endocrine referral if puberty is markedly delayed【17】【16】.

Metabolic & Cardiovascular

• Check blood pressure at each visit using age‑ and height‑specific percentiles; if > 99th percentile, reduce dietary sodium, encourage weight loss, and consider ACE‑inhibitor or β‑blocker therapy if needed【17】【16】.
• Screen for glucose intolerance with urine dipsticks at clinic visits; if positive, obtain fasting or post‑prandial glucose and refer to endocrinology as appropriate【17】【16】.
• Inquire about gastro‑esophageal reflux disease symptoms; avoid NSAIDs and prescribe a proton‑pump inhibitor when indicated【17】.

Behavioral & Psychiatric

• Establish baseline mood, temperament, and ADHD status before starting steroids; treat existing issues, consider dosing later in the day, or refer to behavioral health if adverse changes occur【17】【16】.

Infectious Disease & Adrenal Suppression

• Educate caregivers about the risk of adrenal suppression and the need for prompt management of infections; include tuberculosis surveillance as part of routine care【17】【16】.
• Provide a steroid‑alert emergency card detailing actions for acute illness, fractures, serious infection, surgery, or anesthesia【12】【13】【14】【15】.

Expected Clinical Outcomes

• Glucocorticoid therapy markedly slows the decline in muscle strength and function, prolongs ambulation by several years, reduces the incidence of scoliosis requiring surgery, and stabilizes pulmonary and cardiac function【13】.