Neuromuscular diseases
An inherited disease that affects the motor nerve cells in the spinal cord and causes muscle weakness. In Türkiye, it has been included in newborn heel-prick blood screening since 2022.
Included in Türkiye's National Newborn Screening Programme (heel-prick test) since May 9, 2022. Source
This page is translated from the Turkish original.
SMA is an inherited disease that affects the motor nerve cells in the spinal cord. These cells send movement signals to the muscles. As these cells are lost over time, the muscles become weak and thin. Weakness is greatest in the muscles close to the trunk.
The age when symptoms begin and how severe they are vary greatly from person to person. They can begin in infancy, in childhood or in adulthood. The intelligence of children with SMA is not affected.
The diagnosis is considered when muscle weakness and difficulty moving are noticed. The doctor examines the person and checks the reflexes. The diagnosis is confirmed with a genetic test done on a blood sample. This test looks for the change in the SMN1 gene.
There are medicines and gene therapies that target the cause of the disease. These treatments work best when they are started before symptoms begin. But they cannot bring back nerve cells that have already been lost. Physiotherapy, mobility aids, and support with breathing and nutrition are also part of care. The doctor who follows the disease decides which treatment is suitable.
SMA is passed on through recessive inheritance: both copies of the gene are changed. The mother and father are usually healthy carriers. In each pregnancy, the chance that the baby has SMA is 25%. Early testing of brothers and sisters who have no symptoms, and genetic counselling, are recommended.
Source: MedlinePlus Genetics – Spinal muscular atrophy · NHS – Spinal muscular atrophy (SMA) · GeneReviews – Spinal Muscular Atrophy
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.
TürkiyeDiagnosis and screening
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study.
EUNew treatments and approvals
The European Commission approved onasemnogene abeparvovec, given into the spinal fluid, for spinal muscular atrophy.
TürkiyeSGK and reimbursement
The criteria for the use and reimbursement of nusinersen and risdiplam in SMA treatment have been revised.
USANew treatments and approvals
The FDA approved a new form of onasemnogene abeparvovec, given once into the spinal canal (intrathecally), for children, teenagers and adults aged 2 years and older with SMA and a confirmed mutation in the SMN1 gene.
TürkiyeHealth policy
Health Minister Kemal Memişoğlu announced that the synthesis of the active ingredient nusinersen has been completed.
TürkiyeSGK and reimbursement
Another drug used to treat children with SMA will be added to the SGK (Social Security Institution) reimbursement list.
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 54 active interventional studies for this disease. 26 are 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)RecruitingNCT07444476
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT07047144
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT07287982
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT06555419
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT07554924
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:70 · ICD-11 8B61
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.