Limb girdle muscular dystrophy (LGMD)

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 (variants) in many different genes.

In the past, different types of LGMD were named using numbers and letters. As more genes were discovered, more names were added to the list. More recently, the LGMDs have been renamed so that similar conditions are grouped together. Though old names may still be used sometimes. A list of the LGMDs with their current and old names can be found at the end of this page.

Being diagnosed with LGMD 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 tell you about local support groups. You can also find out about the support services we offer.

The symptoms of LGMD vary, depending on the type. People in the same family or with the same genetic change may experience different symptoms.

Symptoms often appear between the teenage years and early adulthood. But this can vary depending on the type of LGMD. It’s possible for symptoms to start at any time between early childhood and late adult life.

A common symptom is muscle weakness in the hip, thigh, upper arm, and shoulder muscles. Muscle weakness develops at different rates, depending on the type of LGMD. It can also vary from person to person.

Hip and thigh muscle weakness

The muscles in the legs usually get weaker before the shoulders and arms. This can mean a person with LGMD may:

• Fall over a lot
• Find it hard to run
• Find it hard to walk uphill or climb stairs
• Have problems getting up from the floor

Some people have problems with walking. As the condition progresses, they may need to use a walking aid or wheelchair.

Shoulder and arm muscle weakness

People may find it hard to lift their arms above their head, for example, when washing their hair. Some people have trouble carrying heavy objects or holding their arms out in front of them.

Breathing and heart problems

Some, but not all, types of LGMD can cause breathing and heart problems. These symptoms are more common in LGMDs that start in early childhood. In some severe types of LGMD, breathing and heart problems can affect life expectancy.

Breathing problems may cause:

• 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 have regular check-ups with a specialist. They are likely to recommend yearly flu and pneumonia vaccines. Some people may need to use a machine to help them breathe at night.

Weakness in nearby muscles can lead to problems with swallowing and speech. A speech and language therapist can help with eating, drinking, swallowing and communicating.

Heart problems may cause breathlessness and tiredness in some people. A heart doctor (cardiologist) should monitor any symptoms and may offer treatment to help protect the heart. If heart involvement is expected with your subtype of LGMD, regular check-ups are recommended. These should include tests such as an ECG (electrocardiogram) and an echocardiogram to monitor how your heart is working.

Genetic changes

Genes contain instructions for our cells to make proteins. In LGMD, changes in a gene affect the proteins that help muscles work properly. This means the protein cannot do its job and the muscles can get damaged over time, leading to muscle weakness.

There are many genes involved in the different types of LGMD. They are listed in the tables at the end of this page.

Inheritance

The LGMDs are genetic conditions. This means people are born with the gene change that causes the condition. They usually inherit the changed gene from their parents.

A changed gene can pass from parent to child in one of two ways:

• Autosomal recessive pattern – a child needs two changed genes, one from each parent, to have the condition
• Autosomal dominant pattern – a child only needs one changed gene, from one parent, to have the condition

Occasionally, a changed gene can form for the first time in a person. They can pass the changed gene on to their children.

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 can vary but are usually much higher in the recessive form than the dominant form of LGMD
• 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 find which gene is changed
• A biopsy of the affected muscle to test for some types of LGMD

For more information, see our diagnosis page.

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

For some types of LGMD, doctors who specialise in the heart and/or lungs will also need to be involved. Other specialists may be required as and when and usually this is coordinated by your neurologist. Regular appointments can be scheduled to check heart or lung health and recommend any necessary treatments.

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. These may include gentle stretching, strengthening and aerobic exercises. 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

In some forms of LGMD, foot drop can occur. This is where muscle weakness makes it difficult to lift the foot and toes. This makes it harder to stop the foot from flapping down when walking, which can lead to trips and falls.

If you have foot drop, you might benefit from the use of orthotic to support your ankle and improve your walking. Orthotics can also help with other issues, like sore feet or knees after prolonged walking, shoulder or back pain, or issues with posture.

Ask your GP or specialist to refer you to a local orthotics team or specialist orthotist for an assessment.

Anaesthesia stops a person feeling pain during a procedure or surgery. People with LGMD may be at increased anaesthetic risk when they have a general anaesthetic and may have complications from the medicines used.

It’s crucial to tell the surgeon and anaesthetist about a diagnosis of LGMD and which type, if known, and any heart or breathing problems. They will carry out an assessment and arrange extra care before, during, and after the anaesthetic.

For more information, see our anaesthetics page.

Autosomal recessive

Most LGMDs are inherited in an autosomal recessive pattern. This means someone needs to inherit two changed genes, one from each parent, to have the condition.

People with autosomal recessive LGMD 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 LGMD. But the child will be a carrier of the changed gene.

All the autosomal recessive LGMDs are named LGMDR followed by a number. The ‘R’ stands for ‘recessive’.

Autosomal dominant

Some LGMDs are inherited in an autosomal dominant pattern. This means a person only needs to inherit the changed gene from one parent to have the condition. The parent with the changed gene will also have the condition.

People with autosomal dominant LGMD have a 1 in 2 chance of passing the condition on to their children.

All the autosomal dominant LGMDs are named LGMDD followed by a number. The ‘D’ stands for ‘dominant’. When the LGMDs were renamed, some conditions no longer fitted the pattern of LGMD. These are:

• Myofibrillar myopathy (previously LGMD1A, LGMD1E, and GMD2R)
• Emery-Dreifuss muscular dystrophy (previously LGMD1B)
• Rippling muscle disease (previously LGMD1C)
• Pompe disease (previously LGMD2V)