A case of dysferlinopathy presenting choreic movements.

ABSTRACT

Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.