Etiology of musician's dystonia Familial or environmental?

Institute of Music Physiology and Musicians' Medicine, Hanover University of Music and Drama, Hanover, Germany.
Neurology (Impact Factor: 8.29). 05/2009; 72(14):1248-54. DOI: 10.1212/01.wnl.0000345670.63363.d1
Source: PubMed


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

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Available from: Eckart Altenmüller, Oct 05, 2015
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    • "Demographic data demonstrate a preponderance of male musicians with a male/ female ratio of about 4:1 (Lim and Altenm€ uller, 2003). Hereditary factors play a role in the etiology of MD, as a positive family history of dystonia exists in up to 36% of affected musicians (Schmidt et al., 2009). According to the epidemiological data, the probability of developing MD depends on the instrument played: guitar players, pianists, and brass instrument players have the highest risk of developing dystonia "
    Advances in Experimental Medicine and Biology 10/2014; 826:161-78. DOI:10.1007/978-1-4939-1338-1_11 · 1.96 Impact Factor
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    • "Besides clinical signs, specific rating scales are used to diagnose dystonia, such as Fahn's Arm Dystonia Disability Scale (ADDS; Burke et al., 1985). The genetic disposition of an affected patient can be assessed by the occurrence of dystonia-like symptoms in the family (Schmidt et al., 2009). Reported yips prevalence rates are about 30 times higher than the 1% prevalence of musician's dystonia (Altenmüller, 2003) and up to 5,000 times higher than those of other forms of focal dystonias such as writer's cramp and facial dystonia (Fukuda, Kusumi, & Nakashima, 2006; Nutt, Muenter, Aronson, Kurland, & Melton, 1988), indicating that dystonia might only partially explain the yips. "
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    • "Dystonia can appear in childhood or in adulthood and can involve a single body part (focal), a group of adjacent body parts (segmental) or the whole body (generalized ). As with PD, the susceptibility to disease genes and risk factors is variable (Roze et al., 2009; Schmidt et al., 2009). Dystonia can be evoked by a wide variety of phenomena, including repetitive motor tasks, anti-psychotic medications, brain damage, environmental factors, neurological disease (e.g., PD and HD) and genetic mutations. "
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