Duchenne Muscular Dystrophy (DMD)

Diagnostic criteria

General and supportive measures

Medicine treatment

Referral

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G71.01

• An X-linked recessive disorder causing progressive muscle weakness, typically in males.
• Carrier females may have some degree of weakness.
• Due to a mutation in the gene coding for dystrophin.
• There may be a family history of DMD.

DIAGNOSTIC CRITERIA

Clinical

• Delayed walking.
• Toe walking.
• Gowers sign.
• Waddling gait.
• Lumbar lordosis.
• Calf pseudohypertrophy.
• Short stature.
• Progressive proximal muscle weakness, usually confined to a wheelchair by age 13 years.
• Cardiomyopathy.
• May have mild cognitive impairment.
• Behavioural issues.

Investigations

• CK markedly elevated.
• AST/ALT may be elevated.

GENERAL AND SUPPORTIVE MEASURES

• Pain may be present and should be treated appropriately.
• Physiotherapy.
• Occupational therapy.
• Nutritional support.
• Encourage gentle aerobic exercise.
• Psychosocial support for patient and family.

MEDICINE TREATMENT

Consider oral corticosteroids once plateau or decline in motor function, in consultation with neurologist.

• Prednisone, oral, 0.75 mg/kg daily.
  • Maximum dose 30–40 mg.
• Long term use of corticosteroids is associated with various complications. Monitor patients and manage as needed.

If pain is present, refer to Management of pain.

REFERRAL

All cases for specialist assessment.

Click here to access the pdf.

Click here to access NEMLC Report.

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Standard Treatment Guidelines and Essential Medicines List for South Africa, Paediatric Hospital Level_Updated May 2025

Chapter 13: The Nervous System_13.7 Neuromuscular Disorders_13.7.3 Duchenne Muscular Dystrophy (DMD)