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 (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.

What are the alternative names for Limb-Girdle Muscular Dystrophy Type 2I?

  • Autosomal recessive limb-girdle muscular dystrophy type 2I
  • LGMD2I
  • Limb-girdle muscular dystrophy due to FKRP deficiency
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
  • FKRP-related limb-girdle muscular dystrophy R9
  • FKRP-related LGMD R9
  • LGMD due to FKRP deficiency
  • LGMD type 2I
  • Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • Published —
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.