Neuromuscular diseases
A very rare disease caused by a faulty protein building up in the brain. Memory, behavior and movement worsen quickly.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Neuromuscular diseases” group.
CJD is a prion disease. A prion is a brain protein that has changed its shape. This protein also changes normal proteins and builds up in the brain. Nerve cells die and the brain is damaged. The most common type is sporadic CJD; its cause is unknown.
Symptoms progress quickly.
The diagnosis is made by a neurologist, who rules out similar diseases. A brain MRI, an EEG and a lumbar puncture to take fluid from the lower back are done. For the familial type, a genetic test is done on blood. A definite diagnosis can only be made by examining brain tissue.
There is currently no cure for CJD. Treatment aims to ease symptoms and keep the person comfortable. Medicines can be used for anxiety, depression and pain. Many people need care and feeding support over time. The doctor who follows the disease decides which treatment is suitable.
Sporadic CJD and types acquired from outside the body are not inherited. Between 10 and 15% of prion diseases are the familial type. This type is caused by a change in the PRNP gene and is passed on through dominant inheritance. The chance that an affected parent passes it on to each child is 1 in 2. People with a prion disease in the family can get genetic counselling.
Source: NHS: Creutzfeldt-Jakob disease · NHS: Creutzfeldt-Jakob disease – Diagnosis · MedlinePlus Genetics: Prion disease · Orphanet: Sporadic Creutzfeldt-Jakob disease (ORPHA:204)
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.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeDiagnosis and screening
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
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 2 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)RecruitingNCT07482085
Non-drug study (device, procedure, care, etc.)Active, not recruitingNCT05596760
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:204 · ICD-11 8E00
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.