autosomal recessive limb-girdle muscular dystrophy type 2G

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness and atrophy primarily affecting the proximal muscles of the upper and lower limbs. The condition is caused by mutations in the TCAP gene, which plays a role in muscle structure and function. Symptoms can appear from infancy to adolescence, and while patients may experience mild scapular winging and calf hypertrophy, there is typically no involvement of respiratory or cardiac systems. The inheritance pattern is autosomal recessive, meaning that both copies of the gene must be mutated for the disease to manifest.

The documentation surrounding LGMD2G is limited due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This low incidence restricts the scope of systematic clinical studies and comprehensive phenotype documentation. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization. As a result, many aspects of the condition remain under-researched, which can be frustrating for patients and families seeking information.

Currently, there are two active clinical trials investigating potential treatments for autosomal recessive limb-girdle muscular dystrophy type 2G. You can find more information about these trials and their eligibility criteria by visiting the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202G. While there are no orphan drug designations at this time, the ongoing research offers hope for future treatment options.