Neuromuscular diseases
An inherited muscle disease, seen mostly in boys, in which muscle tissue becomes progressively weaker.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: English, German, Spanish, French, Italian, Polish). See on Orphanet
This page is translated from the Turkish original.
Duchenne muscular dystrophy is an inherited disease that gradually weakens the muscles. A protein called dystrophin, which protects muscle cells, is missing. It affects both the skeletal muscles and the heart muscle. It occurs almost only in boys.
Muscle weakness begins in early childhood and increases quickly. The disease is progressive and shortens life. But thanks to advances in care, life expectancy has increased.
The diagnosis is considered when muscle weakness and delayed development are noticed. Blood tests and a genetic test are done. The genetic test shows the change in the DMD gene. Sometimes a muscle biopsy (taking a small piece of muscle) or an MRI of the muscles is also used.
Steroid-type medicines help to preserve muscle strength and movement. There are also targeted treatments for certain specific gene changes. Physiotherapy, heart and breathing check-ups, and nutrition and school support are part of care. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through the X chromosome. The change often comes from a mother who is a carrier; sometimes it arises for the first time in the child. For each son of a carrier mother, the chance is 50%. Women who are carriers also have their heart checked; genetic counselling is recommended for families.
Source: MedlinePlus Genetics – Duchenne and Becker muscular dystrophy · NHS – Muscular dystrophy · GeneReviews – Dystrophinopathies
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
For all rare diseases: Nadir Hastalıklar Federasyonu
Links checked on October 8, 2026.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
EUNew treatments and approvals
The European Commission has granted conditional marketing authorization to givinostat for patients with DMD.
JapanNew treatments and approvals
Japan's Ministry of Health has conditionally approved delandistrogene moxeparvovec, for a limited time, for children with DMD.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 79 active interventional studies for this disease. 31 are recruiting now; 11 have sites in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT05996003
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Enrolling by invitationSite in TürkiyeNCT07573631
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT06280209
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT06053814
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT03992430
See all studies on ClinicalTrials.gov · Joining clinical trials
InternationalResearch and clinical trials
The HIMALAYA study, published in The Lancet Neurology, examined an experimental drug in patients with ALS (amyotrophic lateral sclerosis).
TürkiyeResearch and clinical trials
A multicenter study in Istanbul compared patients with Guillain-Barré syndrome.
USANew treatments and approvals
The US Food and Drug Administration (FDA) approved levacetylleucine for balance and walking problems in ataxia-telangiectasia (A-T).
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:98896 · ICD-11 8C70.1
Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.