Limb-girdle muscular dystrophies (LGMD) refer to a group of genetic disorders characterized by progressive muscle weakness and wasting predominantly affecting the muscles of the limbs and the muscles around the shoulder and hip girdles. This term encompasses a heterogeneous group of muscular dystrophies, with at least 30 different subtypes identified so far.
LGMDs are genetic conditions, mostly inherited in an autosomal recessive pattern, meaning that an individual needs to inherit a defective gene from both parents to develop the disease. However, some subtypes may follow an autosomal dominant inheritance pattern, where a single abnormal gene from one parent can lead to the disorder.
Affected individuals with LGMDs typically experience muscle weakness and wasting that begins in the proximal muscles of the upper or lower extremities. This weakness gradually progresses and may spread to involve other muscle groups, causing difficulties in performing everyday tasks such as walking, climbing stairs, and lifting objects. Symptoms may appear in childhood or adulthood, and the severity and rate at which the disease progresses can vary significantly between different subtypes and affected individuals.
Diagnosis of LGMDs involves a combination of clinical evaluation, genetic testing, muscle biopsy, and electromyography. While there is currently no cure for LGMDs, management primarily focuses on alleviating symptoms, such as physical therapy, respiratory support, and orthopedic interventions as the disease progresses. Ongoing research aims to develop targeted therapies and interventions to slow down disease progression and enhance the quality of life for affected individuals.
