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Limb girdle muscular dystrophy (LGMD)

Overview

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.

Symptoms of limb girdle muscular dystrophy

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.

How limb girdle muscular dystrophy is caused

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.

Getting a diagnosis for limb girdle muscular dystrophy

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.

Condition management

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 safety

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.

Types of LGMD

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’.

Name (Old Name) Changed gene Symptoms Heart and breathing problems
LGMDR1

calpainopathy

(LGMD2A)

CAPN 3
  • Symptoms usually start in children aged 8-15, but can start between ages of 2 and 40 years
  • Usually develops slowly or moderately fast
  • May be mild to severe muscle weakness
  • Affects pelvic muscles first, followed by shoulder muscles
  • May cause stiff joints (contractures)
  • Shoulder blades may stick out (scapular winging)
Low chance of mild heart problems

Chance of mild breathing problems in later life

LGMDR2

Dysferlinopathy

Miyoshi myopathy

(LGMD2B)

DYSF
  • Symptoms usually start in young adulthood
  • Usually develops slowly
  • May cause calf muscle weakness
  • Causes muscle weakness in the pelvis and shoulders
Heart and breathing not usually affected
LGMDR3
LGMDR4
LGMDR5
LGMDR6

Group name: Sarcoglycanopathies

(LGMD2D,LGMD2E, LGMD2C, LGMD2F)

SGCA
SGCB
SGCG
SGCD
  • Symptoms usually start in childhood
  • Develops at different rates from person to person but can be fast in children
  • May be mild to severe muscle weakness
  • May cause stiff joints (contractures)
  • Shoulder blades may stick out (scapular winging)
Heart problems can be common and severe but are rare in LGMDR3

Breathing problems are common

LGMDR7

(LGMD2G)

TCAP
  • Symptoms usually start in childhood or teenage years
  • Starts with weakness in leg muscles
  • Some people may need to use a wheelchair by age 40
About half of people have heart problems

No breathing problems

LGMDR8

(LGMD2H)

TRIM32
  • Symptoms usually start in young adulthood
  • Starts with mild to severe leg muscle weakness
  • May affect arm muscles later on
  • May cause mild weakness of face muscles
May cause heart problems

No breathing problems

LGMDR9

(LGMD2I)

FKRP
  • Common in the UK and northern Europe
  • Symptoms usually start at 10-20 years of age
  • May be mild to severe
  • Develop at different rates but may be fast in young children
  • May cause stiff joints (contractures)
May cause heart and breathing problems
LGMDR10

Titinopathy

(LGMD2J)

TTN
  • Symptoms usually start between ages of 10-30 years
  • Causes severe muscle weakness, which develops quickly
  • Only found in Finland so far
  • Other changes in the gene can cause other muscle conditions
May cause heart problems
LGMDR11

Part of a group called dystroglycanopathies

(LGMD2K)

POMT1
  • Symptoms start in early childhood
  • Usually develops slowly
  • Causes severe learning difficulties
  • Has been found in a few Turkish and English families
Sometimes common
LGMDR12

(LGMD2L)

ANO5
  • Symptoms usually start in adulthood
  • May have weakness in calf muscles
  • Thigh and upper arm muscle weakness may affect one side of the body
  • Develops very slowly
  • Muscle pain is more likely than in other types of LGMD
May cause heart and breathing problems
LGMDR13

Part of a group called dystroglycanopathies

(LGMD2M)

FKTN
  • Symptoms usually start in early childhood
  • May cause eye problems and learning difficulties
  • >

Some people have heart problems
LGMDR14

Part of a group called dystroglycanopathies

(LGMD2N)

POMT2
  • Symptoms start in early childhood
  • Symptoms vary from person to person
  • Muscle weakness varies from mild to severe
  • May cause learning difficulties and eye problems
Some people have heart problems
LGMDR15

Part of a group called dystroglycanopathies

(LGMD20)

POMGnT1
  • Symptoms start in early to late childhood
  • Symptoms vary from person to person
  • May cause eye problems
Some people have heart problems
LGMDR16

Part of a group called dystroglycanopathies

(LGMD2P)

DAG1
  • Symptoms start in early childhood
  • May cause learning difficulties
Unknown, as it’s a rare condition
LGMDR17

(LGMD2Q)

PLEC
  • Symptoms start in early childhood
Unknown, as it’s a rare condition
LGMDR18

(LGMD2S)

TRAPPC11
  • Symptoms start in early to late childhood
  • Muscle weakness affects the lower body more than the upper body
Some people have breathing problems
LGMDR19

(LGMD2T)

GMPPB
  • Symptoms start from birth to young adulthood
  • May cause mild learning difficulties
  • If symptoms start at birth, they may include eye and brain problems
Some people may have heart or breathing problems

Symptoms can overlap with congenital myasthenic syndromes (CMS), doctors may consider both when diagnosing

LGMDR20

(LGMD2U)

ISPD
  • Symptoms start in childhood
  • Symptoms usually develop slowly
  • Can cause low muscle tone and problems with walking
  • If symptoms start at birth, they may include eye and brain problems
May cause mild heart problems
LGMDR21

(LGMD2Z)

POGLUT1
  • Symptoms usually start in young adulthood but can start at birth or during childhood
  • Develops slowly
  • Mainly affects leg muscles
  • Shoulder blades may stick out (scapular winging)
  • Some people may start using a wheelchair from 30 to 60 years of age
No reports of heart problems

May cause mild breathing problems

LGMDR22

(Recessive Bethlem myopathy)

COL6A1
COL6A2
COL6A3
  • Symptoms can start from early childhood to adulthood/li>
  • Often causes stiff joints (contractures)
  • Can cause skin problems
No heart problems

May cause breathing problems in some people

LGMDR23

(Lamin α2-related -muscular dystrophy)

LAMA2
  • Symptoms start from childhood to mid-adulthood/li>
  • May cause stiff joints (contractures)
  • Some people have seizures
Some people aged over 40 years have heart problems

Breathing problems may be possible

LGMDR24

Part of a group called dystroglycanopathies

(POMGNT2-related muscular dystrophy)

POMGNT2
  • Symptoms vary from person to person
  • Some people may not have symptoms
  • Others may have learning difficulties and speech problems
  • May cause eye problems in some people
Unknown, as it is a very rare condition.
LGMDR25

(LGMD2X)

BVES
  • Symptoms start between teenage years and adulthood
  • Muscle weakness develops slowly
  • May cause problems walking
  • May cause thigh and hip pain after exercise
May cause heart problems.
LGMDR26 POPDC3
  • Symptoms start between teenage years and adulthood
  • Muscle weakness starts in the legs
No heart problems.
LGMDR27 JAG2
  • Muscle weakness usually develops slowly
  • May cause weakness in face muscles
May cause heart problems.

May cause mild breathing problems

    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:

    Name (Old Name) Changed gene Symptoms Heart and breathing problems
    LGMDD1

    (LGMD1D)

    DNAJB6
    • Symptoms usually start in adulthood
    • Symptoms develop slowly
    • Muscle weakness often starts in the hips, then spreads to the legs and arms
    May cause heart and breathing problems
    LGMDD2

    (LGMD1F)

    TNP03
    • Symptoms start at any age from under a year to late 50s
    • Develops at different rates from person to person
    • May be mild to severe muscle weakness
    • Shoulder blades may stick out (scapular winging)
    No heart problems.

    Breathing problems not common

    LGMDD3

    (LGMD1G)

    HNRNPDL
    • Symptoms usually start in adulthood
    • Symptoms develop slowly
    • May cause stiffness in fingers and toes (contractures)
    • May cause eye problems (cataracts) in young adults
    • Shoulder blades may stick out (scapular winging)
    No heart problems.

    Breathing problems unknown, as it’s a very rare condition

    LGMDD4

    (dominant calpainopathy)

    (LGMD1I)

    CAPN3
    • Symptoms usually start in young adulthood
    • Symptoms are usually milder and develop more slowly than in the recessive form
    • May cause the spine to bend forward
    • May cause problems with walking
    • Shoulder blades may stick out (scapular winging)
    LGMDD5

    (Bethlem myopathy dominant)

    COL6A1
    COL6A2
    COL6A3
    • Symptoms can start in childhood or adulthood
    • Often causes stiff joints (contractures)
    • Many people continue being able to walk with aids, such as a stick or frame
    • Can cause some skin problems
    No heart problems reported

    May cause breathing problems later

    PIF TIck

    Author: Muscular Dystrophy UK

    Reviewers: Prof Chiara Marini-Bettolo, Dr Ursula Moore, and Dr Robert Muni-Lofra

    Last reviewed: July 2025

    Next review due: July 2028

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