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Neuromuscular diseases

Limb-girdle muscular dystrophy (LGMD)

A group of inherited muscle diseases that affect the muscles around the hips and shoulders. The muscles weaken and waste away over time. The age at onset and the severity vary from person to person.

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?

A change in one of the genes that maintain the structure and repair of muscle causes the disease. More than thirty-two genes can be responsible. The muscles closest to the trunk are affected most: the shoulders, upper arms, hips and thighs. In some types, the heart and breathing muscles are also affected.

Which symptoms can occur?

Symptoms can begin in childhood or later. They can differ even within the same family.

  • Waddling or walking on tiptoe
  • Difficulty running and getting up from a squat
  • Shoulder blades sticking out from the back
  • An increased curve in the lower back or a curved spine
  • Stiffness in the joints, called contractures
  • Weakening of the heart muscle (in some people)
  • Difficulty breathing (in some people)

How is it diagnosed?

The doctor examines which muscles are weak. A muscle enzyme called CK is measured in the blood; it is often high. The most reliable way to find the type is a genetic test; if needed, a muscle biopsy and EMG are done.

Treatment and care

There is not yet a treatment that cures the disease. Care is planned according to the person's symptoms. Physiotherapy and occupational therapy help preserve muscle strength and joint movement. Aids such as a cane, orthoses and a wheelchair can be used. Surgery may be needed for bone problems such as scoliosis. In some types, the heart and breathing are checked regularly. New treatments are being researched for some subtypes. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The pattern of inheritance depends on the type. About 90% of cases are passed on through recessive inheritance. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Recessive diseases can be more common in families where relatives marry each other. In dominant types, the chance for each child of an affected parent is 1 in 2. Genetic counselling helps the family understand the risk.

Source: MedlinePlus Genetics: Limb-girdle muscular dystrophy · NORD: Limb-Girdle Muscular Dystrophies · Orphanet: Limb-girdle muscular dystrophy (ORPHA:263)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
When does it usually start?
Any age

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 LGMD

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 7 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):

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:263 · ICD-11 8C70.4

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.