Learn About Limb-Girdle Muscular Dystrophy Type 2I

What is the definition of Limb-Girdle Muscular Dystrophy Type 2I?
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 in the FKRP gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Limb-Girdle Muscular Dystrophy Type 2I?
  • Limb-girdle muscular dystrophy type 2I
  • Autosomal recessive limb-girdle muscular dystrophy type 2I
  • FKRP-related limb-girdle muscular dystrophy R9
  • FKRP-related LGMD R9
  • LGMD due to FKRP deficiency
  • LGMD type 2I
  • LGMD2I
  • Limb-girdle muscular dystrophy due to FKRP deficiency
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
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What are the latest Limb-Girdle Muscular Dystrophy Type 2I Clinical Trials?
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I

Summary: Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.

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Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study

Summary: Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and progression, determine the Norwegian LGMD 2I prevalence, carrier frequency and genotypes, and to assess health-related quality of life in the Norwegian LGMD 2I population. Main aims are to facilitate future clin...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Limb-Girdle Muscular Dystrophy Type 2I?
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
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