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Limb-Girdle muscular dystrophy
LGMD is a group of disorders with many subtypes caused by mutations in genes that affect the strength and function of the muscles around the hip and shoulder
Prevalence
1-9 / 100 000
Age of Onset
ICD-10
G71.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Limb-girdle muscular dystrophy is characterized by atrophy and weakness of the voluntary muscles of the hip and shoulder areas, i.e., “the limb-girdle area”
FACT
In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running
FACT
Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm
FACT
There is a wide disparity in how the condition evolves, it can be mild and slowly progressive or rapidly progressive
FACT
There are at least 20 different types of limb-girdle muscular dystrophy
Interest over time
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Common signs & symptoms
Shoulder Weakness
Weakness in the muscles around the shoulders can lead to difficulty lifting the arms overhead or performing activities that involve raising the arms
Gait Abnormalities
Individuals with LGMD may exhibit changes in their gait, such as waddling or walking on the toes, due to muscle weakness and imbalance
Falling
Muscle weakness and instability can increase the risk of falls, especially when walking on uneven surfaces or navigating stairs
Muscle Wasting (Atrophy)
Progressive muscle wasting or atrophy may occur as the disease advances, leading to a loss of muscle mass in affected areas
Pseudohypertrophy
Some forms of LGMD may be associated with pseudohypertrophy, where certain muscles appear enlarged due to fatty or connective tissue infiltration, masking underlying muscle wasting
Current treatments
Orthopedic Interventions
Orthopedic interventions, such as bracing or orthotic devices, may be used to provide support and stability to weakened muscles and joints, reduce the risk of falls, and improve mobility
Medications
While there are no specific medications to treat LGMD itself, certain medications may be prescribed to manage symptoms or complications associated with the condition. For example, medications may be used to alleviate muscle pain, reduce inflammation, or manage cardiac symptoms in individuals with LGMD