Limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy, is an autosomal recessive muscle disorder. The clinical presentation includes limb weakness with proximal muscles affected more than distal and a progressive clinical course with loss of independent ambulation in the second decade and elevated creatine kinase 3–22 times normal. Currently, no therapeutic options have been suggested for patients with LGMD 2E. Corticosteroid treatments with prednisone or deflazacort have been shown to slow disease progression in other diseases of dystrophin complex such as Duchenne muscular dystrophy (DMD). This article describes two siblings with LGMD2E, from a nonconsanguineous family, who showed beneficial response in functional strength after 30 months of deflazacort therapy associated with pentoxifylline. Repeated pulmonary function tests were stable, and neither patient developed steroid side effects. Quantitative muscle strength testing in the sister showed improved isolated muscle strength in one of the previously severely affected muscles. This is the first study using deflazacort in patients with LGMD2E.


Références : Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.
Neuromuscul Disord. 2010 Feb;20(2):122-4. Epub 2010 Jan 13.