Neuromuscular diseases
A mitochondrial disease that affects many organs. Stroke-like episodes, seizures and muscle weakness can occur.
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.
There is a change in the mitochondria's own DNA; mitochondria produce energy in the cells. As a result, the cells cannot produce enough energy. The brain and muscles are affected most. A substance called lactic acid can build up in the blood.
Symptoms often begin in a child who was developing normally. But they can appear at any age.
The lactate level in the blood is checked. During an episode, typical changes are seen on a brain MRI. The diagnosis is made with a genetic test that looks at mitochondrial DNA. Sometimes a muscle biopsy, which means taking a small piece of muscle, is needed.
Treatment is mostly aimed at symptoms and support. Some amino acid and vitamin supplements can be used to treat and prevent episodes. Seizures, diabetes and hearing loss are treated separately. Vaccines help reduce episodes triggered by illnesses with fever. Some medicines can harm the mitochondria. The eyes, ears and heart are checked once a year. Research is ongoing. The doctor who follows the disease decides which treatment is suitable.
MELAS is passed from the mother to the child. This is called mitochondrial inheritance. A mother with the gene change passes it on to all her children. But the severity of symptoms in the children can differ greatly. Fathers do not pass this disease on to their children. Sometimes it appears through a new change, without anyone in the family having it. Genetic counselling is recommended.
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 the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
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 4 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)RecruitingNCT06451757
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Not yet recruitingNCT06792500
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Active, not recruitingNCT06961344
Non-drug study (device, procedure, care, etc.)Not yet recruitingNCT06013397
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:550
No separate ICD-11 code; WHO classifies this disease under: 8C73.Y
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.