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NEUROLOGY 2009;72:1248-1254
© 2009 American Academy of Neurology

Etiology of musician’s dystonia

Familial or environmental?

A. Schmidt, MD, MA, H. -C. Jabusch, MD, E. Altenmüller, MD, MA, J. Hagenah, MD, N. Brüggemann, MD, K. Lohmann, PhD, L. Enders, BSc, P. L. Kramer, PhD, R. Saunders-Pullman, MD, MPH, S. B. Bressman, MD, A. Münchau, MD and C. Klein, MD

From the Institute of Music Physiology and Musicians’ Medicine (A.S., H.-C.J., E.A., L.E.), Hanover University of Music and Drama, Hanover; Departments of Neurology (A.S., J.H., N.B., K.L., C.K.) and Human Genetics (K.L., C.K.), Lübeck University; Institute of Musicians’ Medicine (H.-C.J.), Dresden University of Music "Carl Maria von Weber," Dresden, Germany; Department of Neurology (P.L.K.), Oregon Health & Sciences University, Portland; Department of Neurology (R.S.-P., S.B.B.), Albert Einstein College of Medicine, Bronx; Department of Neurology (R.S.-P., S.B.B.), Beth Israel Medical Center, New York, NY; and Department of Neurology (A.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Address correspondence and reprint requests to Dr. Christine Klein, Dept. of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany

Objective: To test the hypothesis that there is familial aggregation of dystonia and other movement disorders in relatives of patients with musician’s dystonia (MD) and to identify possible environmental triggers.

Methods: The families of 28 index patients with MD (14 with a reported positive family history of focal task-specific dystonia [FTSD] and 14 with no known family history [FH–]) underwent a standardized telephone screening interview using a modified version of the Beth Israel Dystonia Screen. Videotaped neurologic examinations were performed on all participants who screened positive and consensus diagnoses established. All patients were investigated for DYT1 dystonia and suitable families were tested for linkage to DYT7. All family members were administered questionnaires covering potential triggers of FTSD.

Results: A diagnosis of dystonia was established in all 28 index patients and in 19/97 examined relatives (MD: n = 8, other FTSD: n = 9, other dystonias: n = 2), 5 of whom were members of FH– families. In 27 of the 47 affected individuals, additional forms of dystonia were seen; other movement disorders were observed in 23 patients. In total, 18 families were multiplex families with two to four affected members. Autosomal dominant inheritance was compatible in at least 12 families. The GAG deletion in DYT1 was absent in all patients. Linkage to DYT7 could be excluded in 1 of the 11 informative families. With respect to potential environmental triggers, there was no significant difference between patients with MD/FTSD compared to unaffected family members.

Conclusion: Our results suggest a genetic contribution to musician’s dystonia with phenotypic variability including focal task-specific dystonia.

BIDS = Beth Israel Dystonia Screen; FH+ = reported positive family history of focal task-specific dystonia; FH– = no known family history of focal task-specific dystonia; FTSD = focal task-specific dystonia; MD = musician’s dystonia; WC = writer’s cramp.

christine.klein{at}neuro.uni-luebeck.de

Supplemental data at www.neurology.org

Supported by a grant from the Dystonia Medical Research Foundation, the Bachmann Strauss Foundation, and the Volkswagen Foundation. C.K. is a recipient of a Schilling Award from the Hermann and Lilly Schilling Foundation.

Disclosure: The authors report no disclosures.

Received September 23, 2008. Accepted in final form January 23, 2009.






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