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Neuromuscular diseases

Facioscapulohumeral muscular dystrophy (FSHD)

An inherited muscle disease. The muscles of the face, shoulders and upper arms weaken most. In most people it progresses slowly over the years.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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?

The disease is linked to a change in a DNA region at the end of chromosome 4. Because of this, a gene called DUX4, which is normally switched off, is switched on. This gene is thought to damage muscle cells. The muscles weaken slowly over the years.

Which symptoms can occur?

Symptoms usually begin in the teenage years. Mild types may not be noticed until later in life.

  • Difficulty drinking through a straw, whistling and smiling
  • Eyes not closing fully during sleep, and dry eyes
  • Shoulder blades sticking out from the back (common)
  • Difficulty raising the arms above the head
  • Weakness that is more noticeable on one side of the face
  • Weakness in the ankle and foot drop
  • Long-lasting pain (in 50–80% of people)
  • Mild hearing loss and changes in the retina (often not noticed)

How is it diagnosed?

The doctor examines the face and shoulder muscles. The diagnosis is made with a genetic test that looks at chromosome 4. If needed, the blood CK level, hearing and eye tests, and breathing tests are done.

Treatment and care

There is not yet an approved treatment specific to the disease; research is ongoing. Care aims to reduce symptoms. Staying active is recommended. Physiotherapy helps maintain muscle strength. Ankle supports and walking aids can be used. In some people, surgery to fix the shoulder blade in place can be done. If needed, speech therapy and breathing support at night are provided. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Type 1 is passed on through dominant inheritance. For each child of an affected parent, the chance is 1 in 2. In some people, the change appears for the first time and does not come from the family. Type 2 requires two separate genetic changes. These often come from different parents. Genetic counselling helps the family understand the risk.

Source: MedlinePlus Genetics: Facioscapulohumeral muscular dystrophy · MedlinePlus Medical Encyclopedia: Facioscapulohumeral muscular dystrophy · Orphanet: Facioscapulohumeral dystrophy (ORPHA:269)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal dominant
When does it usually start?
Any age
Gene(s) involved
SMCHD1

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.

Guides related to this disease

  • Home care and medical devices · Home health service, oxygen and respiratory device reports, wheelchairs and orthoses, power outage notification, emergency plan.

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 FSHD

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 17 active interventional studies for this disease. 9 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:269 · ICD-11 8C70.3

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.

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.