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Neuromuscular diseases

Rett syndrome

A disorder of brain development seen almost only in girls. After normal development up to the age of 6–18 months, speech and hand skills are lost. Repetitive movements such as hand-wringing occur.

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: Spanish, French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Rett syndrome is a disease that affects brain development. It occurs almost only in girls. The baby develops normally for the first 6–18 months. Then speech, hand skills and movement abilities decline quickly.

Which symptoms can occur?

After the decline, the condition often stays more stable for a long time. How severe the symptoms are varies from person to person.

  • Loss of purposeful use of the hands; repeated movements such as hand-wringing or clapping (common)
  • Loss of speech (common)
  • Difficulty with walking and balance (common)
  • Slowing of head growth (common)
  • Seizures (common)
  • Episodes of breath-holding or rapid breathing (sometimes)
  • Curvature of the spine, called scoliosis (sometimes)
  • Sleep problems; cold hands and feet (sometimes)

How is it diagnosed?

The diagnosis is made using specific clinical criteria. Doctors look for loss of hand skills and speech after a period of decline, difficulty walking and repeated hand movements. In most typical cases, a genetic test shows the change in the MECP2 gene.

Treatment and care

Treatment is mainly aimed at the symptoms and is provided by a team. Seizures, scoliosis, muscle stiffness, and sleep and digestive problems are addressed. Communication support and psychological support for the family are important parts of care. The heart rhythm is also checked regularly. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Rett syndrome often appears in a family for the first time; the gene change arises newly in the child. So the chance of it happening again in later pregnancies is low, but not zero. Genetic counselling explains the risks and testing options to the family.

Source: MedlinePlus Genetics – Rett syndrome · Orphanet – Rett syndrome · GeneReviews – MECP2 Disorders

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide) · Birth prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
X-linked dominant
When does it usually start?
Infancy
Gene(s) involved
MECP2

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

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.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Rett

Clinical trials (ClinicalTrials.gov)

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.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 18 active interventional studies for this disease. 6 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

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:778 · ICD-11 LD90.4

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.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.