Limb girdle muscular dystrophy R2 (LGMDR2)

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 as they are caused by changes in many different genes.

LGMDR2 is a form of LGMD caused by changes in the dysferlin (DYSF) gene. In the past, LGMDR2 was called LGMD2B or a dysferlinopathy. Old names may still be used sometimes.

Being diagnosed with LGMDR2 can lead to changes in your daily life. It can affect your independence, access to education and work, and relationships. Your healthcare team can help you learn about and manage your condition and tell you about local support groups. You can also find out about the support services we offer.

The symptoms of LGMDR2 can vary from person to person, even within the same family. They usually start in the teenage years or early adulthood but can start later. Symptoms usually develop slowly over many years, but this can vary from person to person.

Muscle weakness

At first, people usually have weakness and wasting (loss of muscle bulk) in the hip, thigh, shoulder, and calf muscles. Many people find it hard to stand on their tiptoes soon after their first symptoms appear. Some people also experience muscle pain and swelling in the legs, especially in the calves, but usually this pain does not last long.

The weakness often starts in the legs and may be worse on one side of the body. It can cause frequent falls and make it harder to run, walk uphill, climb up stairs, or get up from the floor. As the condition progresses, people may also have difficulty walking on flat surfaces.

Shoulder and arm weakness can make it more difficult to do overhead activities like wash your hair, reach high cupboards, or lift heavy items onto shelves. The hands and forearms can be affected later, which may make intricate tasks harder.

Facial and neck muscles are usually not affected, and swallowing problems are unlikely.

LGMDR2 varies a lot from person to person. In general, it gets worse slowly over many years. Some people may eventually need to use a wheelchair, but the majority of people remain able to walk (ambulant).

Breathing and heart problems

Breathing and heart problems are not common in LGMDR2. But a few people may have symptoms that need monitoring. LGMDR2 does not usually affect life expectancy, unless there are serious breathing or heart problems.

Genetic changes

Genes contain instructions for our cells to make proteins. In LGMDR2, changes in the DYSF gene affect the dysferlin protein. This protein is important for repairing muscle that is damaged during normal daily living.

As a result, the protein cannot repair damaged muscles properly and the muscles are gradually replaced by scar tissue and fat, causing muscle weakness.

Inheritance

LGMDR2 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 LGMDR2 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 LGMDR2. 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. The neurologist 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:

• Blood test to measure levels of creatine kinase (CK) – ck levels are usually high in LGMDR2
• CT or MRI scan to show which muscles are affected
• Needle exam (Electromyography – EMG) to see how your muscles work
• Genetic testing to look for changes in the DYSF gene
• Biopsy of the affected muscle, to test for the dysferlin protein

For more information, see our diagnosis page.

People with LGMDR2 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 achieve a diagnosis or to help manage LGMD. Referrals can be addressed to Prof Chiara Marini-Bettolo and Dr Lizzie Harris.

Exercise and physiotherapy

Keeping mobile helps keep your joints flexible and 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.

For advice for adults, see exercising with a muscle wasting condition.

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.

Breathing problems

Some people with LGMDR2 may develop breathing problems during the day or at night.

Symptoms can include:

• Poor sleep
• Headaches when waking up 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. Some people may need to use a machine to help them breathe at night.

Heart problems

LGMDR2 does not usually cause heart problems, but a few people may be affected. If heart problems develop, a specialist should provide regular checks and they will recommend any treatment if necessary.

Anaesthesia stops a person feeling pain during a procedure or surgery. In general, people with LGMDR2 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 LGMDR1. They will carry out an assessment and arrange extra care before, during, and after the anaesthetic.

For more information, see our anaesthetics page.