Limb-Girdle Muscular Dystrophy (LGMD): Types, Symptoms and Care
Written by the Muscular Dystrophy Pakistan (MDP) content team. Based on information from the Muscular Dystrophy Association, Muscular Dystrophy UK, Cleveland Clinic and published research (see sources below). Last updated: October 10, 2026.
"She has trouble climbing stairs." "He falls often and cannot get up from the floor without support." "It started in the legs and slowly reached the shoulders." These are the stories of many people with limb-girdle muscular dystrophy (LGMD), a group of inherited muscle conditions that mainly weaken the muscles around the shoulders and hips. LGMD affects boys and girls, men and women equally, and it is often missed or confused with other conditions for years. This guide explains LGMD in simple words: what it is, its main types, symptoms, diagnosis, care, and what families in Pakistan should know.
Quick facts
- LGMD is a group of more than 30 genetic muscle conditions, which mainly cause weakness of the muscles around the shoulders and hips (the "limb girdles").
- It affects boys and girls equally, because most types are inherited through non-sex chromosomes (autosomal inheritance).
- Most types are autosomal recessive (named LGMD R), and a smaller number are autosomal dominant (named LGMD D).
- The most common type in many countries is LGMD R1, caused by changes in the CAPN3 gene (calpain-3).
- Age of onset ranges from childhood to adulthood, and progression ranges from slow to fast, depending on the type.
- Some types can affect the heart and breathing muscles, so a correct genetic diagnosis matters.
What Is Limb-Girdle Muscular Dystrophy?
The name describes where the weakness starts. The "limb girdles" are the muscle groups around the shoulders (the shoulder girdle) and around the hips and thighs (the pelvic girdle). In LGMD, these muscles slowly weaken and lose bulk, usually on both sides of the body equally. LGMD is one of the more common genetic causes of muscle weakness, with an estimated worldwide prevalence of roughly 0.8 to 6.9 in every 100,000 people. Because there are so many subtypes, each one is rare.
LGMD is not contagious and is nobody's fault. It is caused by changes in genes that make muscle proteins.
What Causes LGMD?
Each type of LGMD is caused by a change in a different gene. Each gene makes a protein that helps muscle fibres stay healthy. These proteins include the calpain-3, dysferlin and sarcoglycan proteins. When one of them is missing or does not work, muscle fibres slowly break down and are replaced by fat and scar tissue.
Because LGMD genes are on the non-sex chromosomes, boys and girls are affected equally. There are two main inheritance patterns:
- Autosomal recessive (LGMD R): The child receives a changed copy from both parents. The parents are usually healthy carriers. With each pregnancy, there is a 25% chance of an affected child, a 50% chance of a healthy carrier child, and a 25% chance of a child who is neither affected nor a carrier. Recessive types are more likely to appear when parents are related, which is relevant in Pakistan, where about half of all marriages are between first cousins.
- Autosomal dominant (LGMD D): One changed copy is enough. An affected parent has a 50% chance of passing the condition to each child.
How LGMD Types Are Named
Older names used numbers and letters, such as LGMD 2A or 1D. A newer naming system uses the letter R for recessive or D for dominant, a number, and the gene or protein involved. For example, the old name LGMD 2A is now LGMD R1 calpain-3-related. You may still see both names, so it is useful to know them.
Main Types of LGMD
| Type (old name) | Gene / protein | Good to know |
|---|---|---|
| LGMD R1 (2A) | CAPN3 / calpain-3 | The most common type in many regions. Usually starts in childhood or teens with hip and thigh weakness. Heart and breathing are generally not affected |
| LGMD R2 (2B) | DYSF / dysferlin | Often begins in the late teens or early adulthood, sometimes in the calf muscles. CPK is typically very high |
| LGMD R3 to R6 (2D, 2E, 2C, 2F) | SGCA, SGCB, SGCG, SGCD / sarcoglycans | Can start in childhood and sometimes look like Duchenne. The heart and breathing can be involved in some |
| LGMD R9 (2I) | FKRP | Wide range of severity. Heart and breathing involvement can occur, so regular checks are needed |
| LGMD D1 (1D) | DNAJB6 | An autosomal dominant type that usually begins in adulthood |
This is only a selection. More than 30 subtypes have been described, and new ones are still being found. Each type has its own pattern, which is why genetic testing is so valuable.
Symptoms of LGMD
Symptoms vary by type, and even within one family. Common signs include:
- Difficulty getting up from a chair, from the floor or from the toilet, and trouble climbing stairs
- Frequent falls, a waddling walk, and difficulty running
- Walking on tiptoes in some types
- Weakness when lifting the arms, carrying things or combing hair
- Shoulder blades that stick out ("winging" of the scapula)
- Muscle pain, cramps and tiredness after activity
- Tight joints, such as the ankles, and, in some people, a curved spine
- Enlarged calf muscles in some types
Heart and breathing: In some types, the heart muscle or the breathing muscles can be affected. In others, such as LGMD R1, they are generally not. Because it depends on the exact type, heart and lung checks should be guided by the genetic diagnosis.
How Fast Does LGMD Progress?
It depends on the type. For LGMD R1, symptoms usually begin between ages 8 and 15, though they can start anywhere from about age 2 to 40. In more severe forms, people may lose the ability to walk some 10 to 30 years after symptoms begin, while in milder forms this may not happen until after the age of 60. Other types, such as some sarcoglycan types, can progress faster in childhood. A specialist can explain the pattern for each type.
How Is LGMD Diagnosed?
- Doctor's examination: The pattern of weakness in the hips, thighs and shoulders gives the first clue, and the doctor also asks about relatives with similar problems.
- CPK blood test: Usually raised, from mildly to very high.
- Muscle MRI: Shows which muscles are affected and the pattern of damage.
- Genetic testing: A gene panel or exome sequencing finds the exact type. This is now the key test.
- Muscle biopsy: A small muscle sample can show which protein is missing, and is used when genetic tests are not available or unclear.
- Heart and lung tests: ECG, echocardiogram and breathing tests, when the type or symptoms call for them.
In boys with hip weakness and a raised CPK, Becker muscular dystrophy must also be ruled out, because it can look similar. See our guides on how muscular dystrophy is diagnosed and on Becker muscular dystrophy for more.
Care and Management of LGMD
For most types of LGMD there is no cure yet, and the main treatment is good medical care by a team of specialists. Research on gene therapy for some subtypes is ongoing, and clinical trials exist for a few of them.
- Know the exact type. This tells the doctor what to watch for and how often.
- Heart checks: Regular heart assessments for the types where the heart can be involved, with treatment if needed.
- Breathing checks: Lung function and sleep breathing tests where the type calls for them, and early treatment of chest infections.
- Joints, spine and bones: Tight joints and spine curvature are reviewed by an orthopaedic doctor when they cause problems. Vitamin D, calcium and bone health are checked, because weakness and falls increase fracture risk.
- Everyday activity: Gentle, regular activity is generally encouraged, while very hard or exhausting exercise should be avoided. Ask your specialist what is suitable for your type.
- Safety with anaesthesia: Always tell every doctor, dentist and anaesthetist about your muscular dystrophy before any procedure.
- Vaccines and infections: Flu and pneumococcal vaccines are usually advised, especially if breathing is affected.
- Emotional and social support: Education, work, family life and mental health matter as much as muscles. Support from others living with LGMD helps.
LGMD and Family Planning
For recessive types, parents of an affected child are carriers, and each pregnancy has a 25% chance of an affected child. Brothers and sisters of an affected person may be carriers, and they can be offered carrier testing once the family's gene change is known. For dominant types, a person with the condition has a 50% chance of passing it to each child. A genetic counsellor can explain the risk and the available options, which depend on availability and on each family's own values.
LGMD in Pakistan
LGMD is a condition that is close to our heart at MDP. Our founder, Ghulam Ali, lives with LGMD type R1, and he started MDP in 2021 after years of searching for a confirmed diagnosis. MDP observes LGMD Awareness Day every year on 30 September to spread awareness and promote early diagnosis.
Many people with LGMD in Pakistan wait years for the right diagnosis. Weakness that starts in the teens or twenties is often explained as tiredness, weight or lack of exercise, and genetic testing is mostly available in major cities. Because recessive types are more likely when parents are related, and because the condition affects both boys and girls, families need clear information and access to genetic counselling. If you or a family member has LGMD or unexplained muscle weakness, please register on the MDP patient registration portal below, so that every patient becomes visible.
Frequently Asked Questions
Is LGMD the same as Duchenne or Becker?
No. Duchenne and Becker are X-linked, mostly affect boys, and are caused by the DMD gene. LGMD is caused by many different genes, affects boys and girls equally, and mainly weakens the shoulder and hip muscles.
Can girls and women have LGMD?
Yes. Because LGMD genes are not on the sex chromosomes, girls and boys are affected equally.
Will I lose the ability to walk?
It depends on the type. In some types people keep walking into old age, and in others walking is lost earlier. Your specialist can tell you what is typical for your type.
Is LGMD curable?
Not yet for most types. Care focuses on monitoring and protecting the heart and lungs, and clinical trials for some types are ongoing.
Which doctor should I see?
A neurologist, ideally one who knows neuromuscular disorders. They can order a CPK test and refer for genetic testing.
Can LGMD be inherited from only one parent?
In dominant types, yes. In recessive types, which are more common, the child inherits a changed copy from both parents.
Can brothers and sisters be tested?
Yes. Once the family's exact gene change is known, relatives can be tested to see whether they carry it. A genetic counsellor can advise.
The Right Name Changes the Road Ahead
Limb-girdle muscular dystrophy is a long journey, but it is not a journey that anyone should take without answers. Knowing the exact type tells you what to expect, which organs to check, and what risk other family members face. If you have been told for years that your weakness is "nothing", ask your doctor for a CPK test and genetic testing. Follow the MDP blog for our upcoming guides on each type of muscular dystrophy, and share this article with someone who may need it.
Sources and Further Reading
- Muscular Dystrophy Association (MDA), Limb-Girdle Muscular Dystrophy (LGMD)
- Muscular Dystrophy UK, Limb girdle muscular dystrophy R1 (LGMDR1)
- Cleveland Clinic, Limb-Girdle Muscular Dystrophy (LGMD)
- LGMD: identification, description and classification, PubMed Central
- Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1, PubMed Central
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies, PubMed Central
Medical disclaimer: This article is for awareness and education only. It is not a substitute for professional medical advice, diagnosis or treatment. Please consult a qualified doctor about any medical concern. Never start, change or stop a medicine without your doctor's advice.
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