Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

Frank Spaans (1) , Carin G Faber (1) , Hubert J M Smeets (2) , Paul a M Hofman (3) , Claudia Braida (4) , Darren G Monckton (4) , Christine E M de Die (5)

1 MUMC - Maastricht University Medical Centre
2 Dept. Genetics and Cell Biology, Maastricht University
3 Dept. Radiology, Maastricht University Medical Centre
4 Biomedical and Life Sciences, University of Glasgow
5 Dept. Clinical Genetics, Maastricht University Medical Centre

To report new disease components in a unique myotonic dystrophy type 1 (DM1) family previously described by us, in which all affected members also had a sensorimotor neuropathy that co-segregated with markers flanking the DM1 locus.

Mots clés: HMSN (CHARCOT-MARIE-TOOTH); MYOTONIC DYSTROPHY

Frank Spaans, Carin G Faber, Hubert J M Smeets, Paul a M Hofman, Claudia Braida, et al.. Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. Journal of Neurology, Neurosurgery and Psychiatry, 2009, 80 (9), pp.1029. ⟨10.1136/jnnp.2008.170126⟩. ⟨hal-00552756⟩