Duchenne muscular dystrophy (DMD): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Duchenne muscular dystrophy (DMD): investigations. The dystrophin gene is on chromosome Xp21. Fully referenced neurology checklist.

Genetics

  • The dystrophin gene is on chromosome Xp21
  • Out-of-frame mutations occur in 65% of cases
  • These usually cause complete dystrophin deficiency
  • DMD may also result from partial dystrophin deficiency
  • The onset age is usually between 2-5 years

Genetic testing: techniques

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Creatinine kinase (CK)

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Muscle biopsy

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Magnetic resonance imaging (MRI): sites of atrophy and oedema

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Magnetic resonance imaging (MRI): spared muscles

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Other investigations

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References

  1. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9:77-93.
  2. Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008; 93:986-990.
  3. Manzur AY, Muntoni F. Diagnosis and new treatments in muscular dystrophies. JNNP 2009; 80:706-714.
  4. Araujo APQC, Saute JAM, Fortes CPDD, et al. Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy. Arq Neuropsiquiatr 2023; 81:81-94.
  5. Patten JP. Neurological Differential Diagnosis. 2nd edition. Springer New York 1996 p316.

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