Limb-girdle muscular dystrophy symptoms
Reviewed by Limb-girdle muscular dystrophy (LGMD) is a group of inherited diseases that cause progressive muscle weakness and wasting, mainly in the hips and shoulders. Other muscles may also become affected over time.
LGMD has more than 30 genetic subtypes. Genetic testing can identify the disease-causing mutation and subtype, while a muscle biopsy may support diagnosis when testing is inconclusive.
Limb-girdle muscular dystrophy symptoms vary in severity, onset, and progression, even within families. Symptoms that begin in childhood are generally more severe and progress faster than those that begin in adulthood.
What are the early signs of LGMD?
In LGMD, weakness in the upper legs and upper arms usually develops first. Early signs can include:
Difficulty rising, climbing stairs, or running
People may find it difficult to move from a seated or lying-down position on the floor to standing. They may also have difficulty walking up the stairs, running around, or walking uphill.
This mainly occurs due to worsening muscle weakness in the thighs and hips. This area usually gets weaker before the upper body.
Changes in walking and frequent falls
Weakness in the hips and legs often causes falls and difficulties with walking. A symptom called foot drop can mean that a person has difficulty lifting their foot. This makes the foot flap down, increasing the risk of trips and falls.
As LGMD progression advances and mobility declines, a person may need walking aids or a wheelchair to move around. Ankle orthotics can help stabilize a person’s gait.
Difficulty lifting the arms overhead
Weakness in the shoulder and upper arm muscles can mean that a person struggles to lift their arms overhead. They may find washing their hair, carrying heavy loads, or holding their arms out in front of them challenging or uncomfortable.
Scapular winging
This refers to the shoulder blades (or scapulae) visibly jutting out from the back. Weakness in the surrounding shoulder girdle muscles can reduce support for the scapulae and cause this symptom.
In LGMD, scapular winging is not a feature of all subtypes, but it can affect people with the following forms:
- LGMDR1
- sarcoglycanopathies
- LGMDR21
- LGMDD2
- LGMDD3
- LGMDD4
Which muscles does LGMD affect?
LGMD mainly affects voluntary muscles, those we use to move, rather than involuntary muscles that keep the body functioning without conscious control (except for the heart and respiratory muscles). These areas can include:
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| Muscle group | How weakness may affect daily activities |
|---|---|
| Hips, pelvis, and thigh | Difficulty standing from a chair, climbing stairs, or walking; a waddling gait or frequent falls |
| Shoulders and upper arms | Difficulty lifting the arms overhead, washing hair, or carrying objects |
| Lower legs and feet | Foot drop and increased tripping in some subtypes |
| Hands | Difficulty typing or performing other hand tasks in some subtypes |
What other symptoms can LGMD cause?
With so many different subtypes, a range of LGMD symptoms can present. Aside from those below, LGMD can cause:
- muscle cramps
- enlarged muscles
- stiff joints
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| Other LGMD symptoms | How they manifest |
|---|---|
| Muscle pain | Certain subtypes, such as LGMDR12, can cause painful muscles. Others, such as LGMDR25, can lead to thigh and hip pain after exercise. |
| Fatigue | Fatigue can be generalized due to the physical effort of getting through daily tasks. However, it might also be due to breathing problems at night and heart issues. This can lead to daytime sleepiness, tiredness, and fatigue. |
| Contractures and posture changes | Several subtypes can cause stiff joints that are stuck in a flexed position, known as contracture. This can result from long periods of limited joint movement. The subtypes that can cause contractures include LGMDR1, LGMDR3–6, LGMDR9, LGMDR22, LGMDR23, LGMDD3, LGMDD5. |
| Swallowing or speech difficulties | Specific subtypes, such as LGMDR24, are linked to muscle wasting near the face and throat that can lead to issues with speech and swallowing. |
| Kyphosis and scoliosis | LGMD can also lead to curvatures of the spine called kyphosis and scoliosis. Surgery may be necessary to fix these issues. |
How can LGMD affect the heart?
LGMD can weaken the heart and disrupt its rhythm, causing breathlessness and fatigue. These symptoms are more common with childhood onset LGMD.
People with LGMD heart symptoms should see a cardiologist for monitoring with electrocardiograms and echocardiograms.
How can LGMD affect breathing?
Some subtypes – more often those that start in early childhood – can result in the following LGMD breathing symptoms:
- sleep disturbances
- morning headaches
- daytime sleepiness
- increased risk of chest infections
People with a subtype that causes breathing problems will need to attend regular checkups with a lung specialist, such as a pulmonologist.
The specialist will likely recommend an annual flu vaccine and pneumococcal vaccines according to the recommended schedule. Some people with LGMD may require a machine to support breathing at night, known as a BiPAP ventilator.
Both heart and lung problems can affect life expectancy with LGMD.
Why do LGMD symptoms vary by subtype?
A person’s specific LGMD symptoms depend on their subtype. Each subtype results from a mutation in a different gene. As each gene encodes a different protein with a different role in the body, the effects of each mutation will differ slightly depending on that protein’s function.
Examples of proteins and their roles include:
- α/β/γ/δ-sarcoglycans and dystroglycan, which play roles in linking the inside of muscle fibers to connective tissue
- dysferlin, which supports the repair of micro-tears from daily muscle use
- titin or myotilin, which help manage muscle tension and filament assembly
- calpain-3 or TRAPPC11, which maintain other proteins and help them move around the cell
These may be active in different parts of the body or act in certain ways within muscle tissue. If these are absent or not working properly, they may contribute to weakness differently.
How do LGMD symptoms progress?
It is not possible to predict LGMD progression for each subtype. Some people with LGMD lose the ability to walk within a few years and live with severe disability. Other people experience a very slow progression and do not experience a great degree of disability.
LGMD can begin during childhood, in adolescence, or even later. Physicians suggest that LGMD tends to be more severe and progress more rapidly if it starts in childhood. Types that start in a person’s teenage or adult years may progress more slowly and be milder. Both sexes carry an equal risk of LGMD.
When should someone be assessed for LGMD?
Speak to a doctor about any early symptoms of LGMD, including:
- waddling gait
- trouble standing up from a sitting position
- difficulty climbing stairs
- difficulty running
- hip and upper leg muscle weakness or atrophy
- trouble raising arms above the head or lifting objects
- balance problems or frequent tripping
A physician can refer a person for genetic tests, blood tests, and a muscle electrical conduction study called electromyography to help determine a diagnosis.
If a healthcare provider diagnoses LGMD, they will likely also make a referral to a heart specialist (cardiologist) and a pulmonologist to assess whether the condition has affected the heart or breathing.
Which symptoms may need prompt attention?
In LGMD, symptoms that indicate heart or breathing emergencies require emergency attention.
These might include the following:
Breathing and sleep problems
Weakness in the chest and diaphragm muscles can make it harder to breathe deeply and remove carbon dioxide, allowing it to build up in the blood. Symptoms include:
- shortness of breath, especially when lying flat
- confusion, irritability, or trouble concentrating
- extreme daytime fatigue or sleepiness
- morning headaches
- weak cough or difficulty clearing mucus
- frequent or long-lasting respiratory infections
- restless sleep or frequent waking
Severe muscle breakdown, or rhabdomyolysis (rhabdo)
Overexertion or illness can cause rhabdo in certain LGMD types. Damaged muscle fibers rapidly break down, releasing harmful proteins directly into the bloodstream and urine.
This can cause dark, tea-colored, or cola-colored urine. Severe, unexpected muscle cramping or muscle aches may occur immediately after exercise or an acute illness.
Complications of swallowing issues
Weakened throat muscles make it difficult to swallow safely. This creates a risk that food, drink, or saliva will enter the lungs and cause severe infection.
Symptoms include:
- coughing or choking during and right after meals
- feeling like food is stuck in the throat
- a voice that sounds wet or “gurgly” while eating or drinking
Falls and bone fractures
Muscle weakness and low bone density increase the risk of falls and fractures. Signs of a fracture include:
- severe pain after a fall
- inability to stand or bear weight
- limb swelling or deformity
Bring medical alert identification and advance directives to the hospital to help guide emergency care.
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