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Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
The LGMD2i Research Fund is working to expedite the development of a treatment or cure for Limb-girdle muscular dystrophy type 2I by building a comprehensive view of the entire LGMD2I research landscape, supporting the most promising research projects, and coordinating and managing the scientific process.
Last updated on 04-27-20
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