Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

E. M.J. Foncke, M. C.F. Gerrits, F. Van Ruissen, F. Baas, K. Hedrich, C. C. Tijssen, C. Klein, M. A.J. Tijssen*

*Corresponding author for this work
28 Citations (Scopus)


We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

Original languageEnglish
Issue number9
Pages (from-to)1677-1680
Number of pages4
Publication statusPublished - 01.11.2006


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