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Duchenne Muscular Dystrophy Exon Skipping

Antisense Oligonucleotide Therapy

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Duchenne Muscular Dystrophy Exon Skipping?

Antisense oligonucleotides (ASOs) bind to pre-mRNA at exon-intron boundary, masking splice sites.

Exon is excluded during splicing, restoring open reading frame (out-of-frame → in-frame).

Produces shortened but partially functional dystrophin (Becker-like).

Approved drugs: eteplirsen (exon 51, ~13% of DMD), golodirsen and viltolarsen (exon 53, ~8%), casimersen (exon 45, ~8%).

Symptoms

DMD presents at 2-5 years: delayed walking, frequent falls, calf pseudohypertrophy.
Gowers' sign (using hands to climb up legs to stand).
Loss of ambulation by 12-13 years (untreated; later with steroids).
Cardiomyopathy by adolescence; respiratory failure by 20s.
Cognitive involvement (mean IQ shifted lower).

Risk Factors

X-linked recessive: affects boys; carrier females usually asymptomatic.
DMD gene mutations on Xp21: deletions (60-70%), duplications (5-10%), point mutations (~30%).
Eligibility for specific exon-skipping depends on patient's specific mutation.
About 30% of DMD patients amenable to one of currently approved exon-skipping therapies.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Boy with delayed motor milestones, frequent falls.
  • Family history of DMD/BMD with newly affected boy.
  • Markedly elevated CK (10,000-50,000) on routine testing.
  • Genetic confirmation of DMD with amenable mutation.
  • Multidisciplinary DMD care center referral.

Treatment Methods

01
Genetic confirmation of mutation; check for amenability to specific exon-skip therapy.
02
Eteplirsen (Exondys 51): 30 mg/kg IV weekly, exon 51 skipping.
03
Golodirsen (Vyondys 53): 30 mg/kg IV weekly, exon 53 skipping.
04
Viltolarsen (Viltepso): 80 mg/kg IV weekly, exon 53 skipping.
05
Casimersen (Amondys 45): 30 mg/kg IV weekly, exon 45 skipping.
06
Combined with corticosteroids (prednisone, deflazacort, vamorolone) — standard of care.
07
Multidisciplinary care: cardiology (ACEi/ARB, beta-blocker for cardiomyopathy), pulmonology (BiPAP, cough assist), orthopedics (scoliosis surgery, contracture management).
08
Adverse effects: injection site reactions, hypersensitivity, rare renal toxicity (proteinuria monitoring).
09
Limited dystrophin restoration (~1-3% normal levels); modest functional benefit; ongoing debate about clinical efficacy.
10
Other therapies: gene therapy (delandistrogene moxeparvovec/Elevidys, micro-dystrophin, recently approved), CRISPR approaches investigational.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.