Neuromuscular diseases
A progressive disease in which the nerve cells that control the muscles die over time. Muscle weakness steadily increases; speaking, swallowing and breathing are affected. It shortens life, but how fast it progresses varies greatly from person to person.
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: German, English, Spanish, French, Italian, Polish, Portuguese). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Neuromuscular diseases” group.
In ALS, the nerve cells that control the muscles die over time in the brain and spinal cord. These cells send movement signals to the muscles. When the signals no longer arrive, the muscles become weak and thin. The disease is progressive and shortens life; but its speed varies greatly from person to person.
Symptoms usually begin in adulthood and increase over time.
For the diagnosis, the person is referred to a neurologist. Blood tests and tests that measure how the nerves work are done. An MRI helps to rule out other conditions that cause similar symptoms. At first, the diagnosis can be difficult to make; it becomes clearer over time.
There is not yet a cure for ALS. Some medicines target the disease itself, and some target symptoms such as cramps and drooling. Physiotherapy, speech therapy, communication aids and nutritional support are important. Care is regularly followed by a team of different specialists. The doctor who follows the disease decides which treatment is suitable.
Most people with ALS have no other affected person in their family. About 1 in 10 people have a family history. If there is ALS in the family, genetic counselling helps to understand the inheritance and the testing options.
Source: MedlinePlus Genetics – Amyotrophic lateral sclerosis · NHS – Motor neurone disease (MND)
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.
InternationalResearch and clinical trials
The HIMALAYA study, published in The Lancet Neurology, examined an experimental drug in patients with ALS (amyotrophic lateral sclerosis).
USAResearch and clinical trials
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
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 197 active interventional studies for this disease. 113 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Non-drug study (device, procedure, care, etc.)RecruitingSite in TürkiyeNCT07292545
Late stage: the effect is being compared in a large group · Phase 2 / Phase 3 · investigational (experimental)RecruitingNCT06126315
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)RecruitingNCT07322003
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT06726577
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT07204977
See all studies on ClinicalTrials.gov · Joining clinical trials
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).
ChinaResearch and clinical trials
A one-year, placebo-controlled study in patients with SCA3 was carried out in China.
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:803 · ICD-11 8B60.0
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.