Limb girdle muscular dystrophy R9 (LGMDR9)

Limb girdle muscular dystrophies (LGMD) are a group of rare genetic conditions that cause gradual weakening of the muscles, mainly in the ‘limb girdle’. This includes muscles around the hips, thighs, shoulders, and upper arms.

There are many different types of LGMD. This is because they are caused by changes in many different genes.

LGMDR9 is a form of LGMD caused by changes in the FKRP gene. In the past, it was called LGMD2I – old names may still be used sometimes. It is also part of a group of conditions called dystroglycanopathies.

Being diagnosed with LGMDR9 can lead to changes in your daily life. It can affect your independence, education, work, and relationships. Your healthcare team can help you learn about and manage your condition and let you know about local support groups. You can also find out about the support services we offer.

The symptoms of LGMDR9 can vary from person to person. They usually start between the ages of 10 and 20, and can develop quickly. Milder forms can start later and develop more slowly.

We describe the most common symptoms below. Other possible symptoms include stiff joints (contractures), a large tongue, and muscle weakness in the stomach area (abdomen).

Hip and thigh muscle weakness

Muscle weakness mainly affects the legs. The first signs may include:

• Problems running or climbing up stairs
• Problems getting up from the floor
• Walking problems
• Muscle pain after exercise
• Large calf muscles

As walking problems develop, people with a severe form of the condition may need to use a wheelchair.

Shoulder and arm muscle weakness

Muscle weakness may make it hard to lift the arms above the head. For example, when washing your hair. Some people have trouble carrying heavy objects or holding their arms out in front of them.

In many people, the shoulder blades can stick out. This is called scapular winging.

Breathing and heart problems

LGMDR9 often causes breathing (respiratory insufficiency) and heart problems (cardiomyopathy).

Breathing problems may cause:

• Poor sleep
• Headaches when waking up in the morning
• Sleepiness during the day
• A higher chance of getting chest infections

People who have breathing problems should see a specialist for regular checks. They are likely to recommend yearly flu and pneumonia vaccines. Some people may need to use a machine called a ventilator to help them breathe at night.

People with a severe form of the condition may need to use a ventilator from a young age. Severe breathing problems can cause life-threatening complications, which could shorten life expectancy, so monitoring is crucial. In case of chest infection, prompt use of antibiotics is recommended. Milder forms of the condition do not usually affect how long you live.

Heart problems (cardiomyopathy) can cause breathlessness and tiredness. A heart doctor (cardiologist) should monitor symptoms and may offer treatment to protect the heart.

See the Condition management section below for information on monitoring and treatment.

Genetic changes

Genes contain instructions for our cells to make proteins. In LGMDR9, changes in the FKRP gene affect the fukutin-related protein. This protein is important for keeping the structure of the muscle. As a result, muscles can be easily damaged and are gradually replaced by scar tissue and fat, causing muscle weakness.

Inheritance

LGMDR9 is a genetic condition, which means people are born with the gene change that causes the condition. They usually inherit the changed gene from their parents.

The changed gene passes from parent to child in an autosomal recessive pattern. This means a child needs two changed genes, one from each parent, to have the condition.

People with LGMDR9 would not usually pass the condition on to their children. This is because children usually inherit an unaffected gene from the parent who does not have LGMDR9. But the child will be a carrier of the changed gene.

For more information, see our inheritance and genetics page.

A GP can make a referral to a specialist doctor. This is likely to be a neurologist – a doctor who specialises in conditions that affect the muscles and nervous system. They will ask about symptoms and any family history of the condition. They may carry out a physical examination to see how the muscles are working.

If a muscle wasting condition is suspected, the doctor will arrange some tests. These may include:

• A blood test to measure levels of creatine kinase (CK) – CK levels are usually high in LGMDR9
• A CT or MRI scan to show which muscles are affected
• A needle exam (Electromyography – EMG) to see how your muscles work
• Genetic testing to look for changes in the FKRP gene
• A biopsy of the affected muscle, to test for the fukutin-related protein

For more information, see our diagnosis page.

People with LGMDR9 should have access to a multi-disciplinary healthcare team to help manage the condition and symptoms – a team of healthcare professionals working together. Usually, the lead professional will be a neurologist.

There is a Highly Specialised Service for LGMD based at the John Walton Muscular Dystrophy Research Centre, part of Newcastle upon Tyne Hospitals NHS Foundation Trust. It’s a national centre and you can ask your doctor to refer you to this service for a second opinion or for specialist advice on managing your condition. Your day-to-day care will remain with your local healthcare team. The service offers advice to both clinicians and patients to get a diagnosis or to help manage LGMD. Referrals can be addressed to Prof Chiara Marini-Bettolo and Dr Lizzie Harris.

Breathing problems

Breathing problems can develop in LGMDR9. Regular monitoring of respiratory function is recommended.

These checks usually include:

• Forced vital capacity (FVC) – a test that measures how much air you can breathe out. It should be done both sitting up and lying down.
• Peak cough flow (PCF) – a test to check how strong your cough is.
• Sometimes, an overnight pulse oximetry test is needed to check your breathing while you sleep.

FVC and PCF are usually done at your muscle clinic appointments. If results show any problems, you may benefit from using a breathing machine at night (assisted ventilation).

Symptoms of breathing problems can include:

• Poor sleep
• Headaches when waking up in the morning
• Sleepiness during the day
• A higher chance of getting chest infections

Those with breathing problems should see a specialist for regular checks. They are likely to recommend yearly flu and pneumonia vaccines.

For more information, see our breathing page.

Heart problems

There is a risk of developing heart problems in LGMDR9, and sometimes there are no symptoms of this. People with LGMDR9 should see a cardiologist regularly.

The cardiologist will carry out tests including an electrocardiogram (ECG) and an echocardiogram to check how the heart is working. Sometimes, a cardiac MRI may also be needed. They will let you know if any treatment is needed to protect the heart.

For more information, see our heart page.

Exercise and physiotherapy

Keeping mobile helps keep your joints flexible and your muscles as strong as possible. It’s important to do the right amount and type of exercise. In general, it’s recommended to exercise regularly, but aim to feel fully recovered by the day after. Some mild muscle soreness is okay, but exercise should not cause pain or weakness that limits your everyday activities.

A physiotherapist is a healthcare professional who helps manage symptoms through movement, exercise, and manual therapy. They can assess symptoms and suggest exercises that are suitable. Finding activities that are enjoyable can make it easier to do them regularly.

Exercise can help in three main ways:

• Keeping your joints and muscles flexible

  This is done through stretching exercises, which target specific joint contractures (tightness) or improve overall mobility. Often, tightness can develop if the joints have more limited movement due to the weakness. It’s important to stretch regularly – ideally four to six times a week – to feel the benefits.

• Keeping your muscles as strong as possible

  Strengthening exercises involve working against resistance. This could include using your own body weight, resistance bands, or small weights. These exercises should allow you to do only a few repetitions (around 12 to 15). Aim to do strength training two to three times a week.

• Maintain your heart and lung response to exercise

  Aerobic exercise involves activities done for a longer period of time (around 45 minutes), at an effort level where it becomes too difficult to talk during it. Depending on your ability, this could involve walking, Nordic walking (a type of walking that uses poles to work your upper body as well as your legs), swimming, dancing, arm cycling, or driving a powered wheelchair. Aerobic activity is recommended three to four times a week.

We have exercise advice for children and for adults.

If fatigue is a concern, see our fatigue management guide for practical tips and support.

Orthotics

Physiotherapists may suggest using orthotics. These are devices worn to help make it easier to stand and move. They can support the muscles in the feet, knees, shoulders or back.

A specialist can put in a referral to the local orthotics team for an assessment.

Anaesthesia stops a person feeling pain during a procedure or surgery. In general, people with LGMDR9 do not have problems with anaesthetics, but this can vary from person to person.

Some medicines, such as neuromuscular junction blockers, should not be used routinely. This is because they can take much longer to wear off in people with muscular dystrophy and may cause serious complications.

It’s crucial to tell the surgeon and anaesthetist about a diagnosis of LGMDR9. They will carry out an assessment and arrange extra care before, during, and after the anaesthetic.

For more information, see our anaesthetics page.