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Duchenne Muscular Dystrophy

A severe X-linked muscular dystrophy that begins in early childhood.

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?

Duchenne muscular dystrophy (DMD) is a serious form of muscular dystrophy with X-linked recessive inheritance, caused by mutations in the gene encoding the dystrophin protein. It almost exclusively affects boys.

Symptoms usually start between ages 2 and 5; delayed walking, frequent falls, difficulty climbing stairs, and getting up from the floor by pushing on the legs (Gower's maneuver) are typical. Calf enlargement (pseudohypertrophy) is a common finding.

The disease is progressive; children typically become wheelchair-dependent by adolescence, and respiratory and cardiac complications limit lifespan. Early multidisciplinary treatment improves both quality of life and life expectancy.

Symptoms

Delayed walking and motor development
Frequent falls and difficulty with stairs
Gower's maneuver (using arms to push on legs when standing)
Calf enlargement (pseudohypertrophy)
Fatigue and muscle weakness
Scoliosis and joint contractures
Cardiac and respiratory involvement (in later stages)

Risk Factors

Male sex
Family history of X-linked muscle disease
Carrier mothers
DMD gene mutation
Family history of sudden cardiac death
Previously affected male sibling
Consanguinity (rare)

When to See a Doctor?

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

  • When walking delay and frequent falls are noticed
  • Marked calf enlargement and weakness
  • Family history of similar diagnosis (genetic counseling)
  • Elevated muscle enzymes
  • Carrier status detected in genetic testing of relatives

Treatment Methods

01
Corticosteroids (slow disease progression)
02
Gene therapy and new molecular treatments (in eligible cases)
03
Physical therapy and orthopedic support
04
Respiratory and cardiac follow-up
05
Scoliosis surgery
06
Psychosocial support and family education

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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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.