Assessment of prevalence of Limb Girdle Muscular dystrophy
Limb-girdle muscular dystrophies (LGMDs) have highly overlapping phenotype and are associated with a number of causative genes. Clinical diagnosis of the disease sub-type is often difficult and molecular diagnosis is expensive given the genetic heterogeneity. Therefore, patients do not receive complete diagnosis. In this project we aim to perform comprehensive exome sequencing analysis on 100 LGMD patients to provide molecular diagnosis, estimate disease prevalence of disferlinopathies and other sub-types and to identify potential new genes causative of or associated with LGMD phenotype. In this project we will also evaluate the predictability and efficiency of the LGMD diagnostic tool developed by Jain Foundation. This will provide confidence to the clinicians around the world who use or intend to use this tool and will also allow for further development of the tool. Also, with an established molecular diagnosis the patients have the opportunity to participate in clinical trials. Identifying and having access to a large cohort of molecularly characterized patients is critical for clinical trials of any prospective therapies.