The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Duchenne Muscular Dystrophy in Children (DMD)

An X-linked recessive disease that causes progressive muscle weakness; the most common childhood muscular dystrophy.

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 Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Duchenne Muscular Dystrophy in Children (DMD)?

Duchenne muscular dystrophy is caused by mutations in the DMD (dystrophin) gene that result in dystrophin protein deficiency. With X-linked recessive inheritance, it almost exclusively affects boys. Becker muscular dystrophy is a milder form involving the same gene.

Clinically, proximal muscle weakness begins between ages 3–5, recognized by Gowers' sign, calf pseudohypertrophy, delayed walking, and recurrent falls. Creatine kinase (CK) is markedly elevated. Wheelchair dependency develops by age 12, and cardiomyopathy and respiratory failure follow in later years.

Diagnosis is made by genetic testing (DMD gene), and muscle biopsy when needed. Treatment includes daily or intermittent glucocorticoids, ataluren, exon-skipping therapies (eteplirsen, golodirsen), gene therapy (elevidys), ACE inhibitors/beta-blockers (cardioprotection), physiotherapy, and respiratory support.

Symptoms

Late walking (after 18 months)
Recurrent falls
Difficulty climbing stairs
Gowers' sign
Calf hypertrophy
Inability to run
Cardiac and respiratory symptoms (in later years)

Risk Factors

Male sex
Family history (X-linked)
Carrier mother
De novo mutation
Elevated CK
Motor developmental delay

When to See a Doctor?

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

  • Walking delay and falls in a boy
  • When Gowers' sign and calf hypertrophy are observed
  • When elevated CK is detected on routine testing
  • When sudden difficulty climbing stairs appears
  • Family history of DMD

Treatment Methods

01
Creatine kinase and genetic testing (DMD)
02
Daily or intermittent glucocorticoids (prednisone, deflazacort)
03
Exon-skipping or gene therapy (in eligible mutations)
04
ACEi and beta-blocker (cardiac protection)
05
Non-invasive ventilation and cough support
06
Multidisciplinary follow-up (neurology, cardiology, respiratory, physiotherapy)

Which Department to Visit?

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

Learn About Çocuk Sağlığı ve Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Newborn Care

Çocuk Sağlığı ve Hastalıkları

The newborn period is a critical phase that requires attentive care of the umbilical stump, temperature regulation, feeding, monitoring of jaundice and screening tests.

Vaccination Schedule

Çocuk Sağlığı ve Hastalıkları

The Turkish Ministry of Health national vaccination schedule arranges the immunization program from birth to adulthood. Timely and complete vaccination is critical in protecting community immunity.

Jaundice in Infants

Çocuk Sağlığı ve Hastalıkları

Neonatal jaundice (jaundice in newborns) presents as yellowing of the skin and eyes. The vast majority of cases are physiological and are easily treated with phototherapy.

Diarrhoea in Infants

Çocuk Sağlığı ve Hastalıkları

Acute diarrhoea is defined as 3 or more loose stools per day. In infants it is most often caused by viral gastroenteritis (rotavirus, norovirus); dehydration may lead to serious complications.

Fever Management in Children

Çocuk Sağlığı ve Hastalıkları

Fever in children (38°C and above) is the body's defense mechanism against viral or bacterial infection. Most fevers resolve spontaneously in 3-5 days; however, some conditions require urgent medical evaluation.

Cough in Children

Çocuk Sağlığı ve Hastalıkları

Cough is the most common symptom in children and is mostly due to viral upper respiratory infections. Cough lasting more than 3 weeks or with characteristic sounds requires detailed evaluation.

Bronchiolitis

Çocuk Sağlığı ve Hastalıkları

Supportive care with hydration, nasal suctioning, and oxygen if hypoxic is the mainstay; routine bronchodilators, corticosteroids, and antibiotics are not recommended per AAP/NICE guidelines.

Croup (Laryngotracheobronchitis)

Çocuk Sağlığı ve Hastalıkları

Croup is a viral inflammation of the larynx and trachea presenting with a barking cough, hoarseness, and inspiratory stridor. It mostly affects children aged 6 months to 3 years.

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.