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.

Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.

Background: Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders.

Objective: This study was set out to determine whether or not patients with DM2 originating from European and non-European countries carry the previously described European founder haplotypes.