Limb-girdle muscular dystrophy type I (LGMDI) is a form of muscular dystrophy that primarily affects the muscles surrounding the shoulders and hips. It is a genetically inherited condition caused by mutations in specific genes responsible for muscle function.
The term "limb-girdle" refers to the affected muscle groups, which include the pelvic girdle (hips) and shoulder girdle (shoulders). The term "muscular dystrophy" describes a group of genetic disorders characterized by progressive muscle weakness and degeneration. Type I LGMD specifically distinguishes this subtype from other types of limb-girdle muscular dystrophy.
Individuals with LGMDI typically experience symptoms such as difficulty with running, climbing stairs, and getting up from a seated position. As the disease progresses, muscle weakness becomes more pronounced, leading to limited mobility and potential loss of independent functioning. LGMDI can present at different ages, with the symptoms often appearing in late childhood or early adulthood.
Diagnosis of LGMDI involves a combination of clinical examination, genetic testing, and muscle tissue analysis. While there is currently no cure for LGMDI, symptomatic management and physical therapy can help individuals maintain muscle strength and mobility. In some cases, assistive devices like canes, braces, or wheelchairs are required to support mobility and independence.
Understanding the genetic basis of LGMDI and advancements in gene therapy hold promise for potential future treatments aimed at addressing the underlying genetic mutations and slowing down the progression of the disease.
