Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2.

Background: Myotonic Dystrophy type 2 (DM2) is a dominantly inherited multisystem disease caused by a CCTG repeat expansion in intron 1 of the CNBP gene. Although in the last two decades over 1500 patients with DM2 have been diagnosed worldwide, our clinical impression of a reduced life expectancy in DM2 has not been investigated previously.

Objective: The aim of this observational study was to determine the life expectancy and the causes of death in patients with genetically confirmed DM2.

Child Neurology: Maternal Transmission of Congenital Myotonic Dystrophy Type 2: Case Report.

Congenital manifestations in Myotonic Dystrophy type 2 (DM2) point to anticipation and have only rarely been described. We report a three-generation family with genetically confirmed DM2. The youngest family member presented with unilateral congenital pes planovalgus and equinus.