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Neuromuscular diseases

Spinal and bulbar muscular atrophy (Kennedy disease)

A slowly progressing neuromuscular disease that begins in adulthood. There is weakness in the muscles of the arms, legs, face and throat. It mostly affects men.

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

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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?

In this disease, the nerve cells that control the muscles are gradually lost. These cells are in the spinal cord and the brainstem. The cause is an expanded repeat in a gene called AR. Symptoms usually begin between the ages of 20 and 50. The disease progresses slowly.

Which symptoms can occur?

Symptoms can differ from person to person.

  • Weakness, cramps and muscle wasting in the arms and legs
  • Difficulty walking and a tendency to fall
  • Difficulty speaking and swallowing
  • Muscle twitching, especially in the tongue and face (common)
  • Hand tremor in certain positions
  • Breast enlargement and infertility (in some men)
  • Numbness

How is it diagnosed?

The diagnosis is suspected from the symptoms and the examination. A definite diagnosis is made with a blood genetic test that looks at the AR gene. Muscle strength is measured every year. The heart, blood fats and blood sugar are also checked regularly.

Treatment and care

There is not yet a known treatment that stops the disease; research is ongoing. Physiotherapy, occupational therapy and speech therapy help preserve skills. A walker or wheelchair can be used for walking. Surgery is sometimes done for breast enlargement. Male hormone supplements can make the disease worse. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through the X chromosome. For each son of a carrier mother, the chance of being affected is 1 in 2. The chance that her daughters are carriers is also 1 in 2. All daughters of an affected father are carriers; it is not passed on to his sons. Women who are carriers usually have no symptoms. Genetic counselling helps the family understand the risks.

Source: MedlinePlus Genetics: Spinal and bulbar muscular atrophy · NORD: Kennedy Disease · Orphanet: Kennedy disease (ORPHA:481)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
X-linked recessive
When does it usually start?
Adulthood
Gene(s) involved
AR

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.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

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 Kennedy disease

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 2 active interventional studies for this disease. 2 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:481

No separate ICD-11 code; WHO classifies this disease under: 8B61.4

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.