Fukutin Mutations Can Cause LGMD

A multinational group that included Diana Escolar, co-director of the MDA clinic at Children’s National Medical Center in Washington, has identified two families with an unusual form of limb-girdle muscular dystrophy (LGMD) and proposes that it be called LGMD2L.

In two families, neither of which was of Japanese descent, mutations in the gene for fukutin led to a muscular dystrophy entirely different from the type associated with deficiencies of this protein in Japanese patients.

The three affected children in the two families had a less severe MD than most fukutin-deficient patients show, and their mental development was normal, which isn’t usually the case when fukutin is missing.

The children’s muscle samples showed a great deal of inflammation, leading doctors to try treating them with the anti-inflammatory corticosteroids prednisone and prednisolone. The children showed considerable strength improvement.

Mutations in fukutin, almost exclusively found in Japan, usually lead to Fukuyama muscular dystrophy, a form of congenital MD that involves severe, early-onset muscle weakness, eye abnormalities and mental retardation.