Diagnostic criteria for dystonia in
            <i>DYT1</i>
            families

Bressman, Susan; Raymond, Deborah; Wendt, Kristin J.; Saunders‐Pullman, Rachel; Leon, Deborah de; Fahn, Stanley; Ozelius, Laurie J.; Risch, Neil

doi:10.1212/01.wnl.0000035630.12515.e0

Cited by 71 publications

(44 citation statements)

References 10 publications

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“…First of all, we cannot exclude that some of our patients were DYT1 positive or had Segawa disease, although late onset and isolated focal or multifocal dystonia as a symptom of either disorder is very unusual [31,32]. Also, most of our patients with onset of dystonia before the age of 40 had undergone treatment to test for levodopa response.…”

Section: Discussionmentioning

confidence: 94%

Impaired sleep quality and restless legs syndrome in idiopathic focal dystonia: a controlled study

et al. 2011

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While sleep disorders are common in Parkinson's disease and other basal ganglia disorders, information on sleep disturbances in dystonia is limited to generalized forms or Segawa disease. Although many patients with idiopathic cervical dystonia (CD) and blepharospasm (BL) report poor sleep, there are no data on frequency or interactions with well known symptoms like depression and pain. Standardized interviews and assessment instruments, clinical examinations, and self rating forms were applied in 221 patients with CD and BL, and in 93 neurologically healthy controls. Impaired sleep quality was found in 44% of CD patients, 46% of BL patients, and 20% of controls. In dystonia, it was associated with symptoms of depression (frequency of 26%; p < 0.001) and restless legs syndrome (RLS) (frequency of 19%; p < 0.01). Bruxism (in CD; p < 0.05), and female sex (in BL; p < 0.001) were identified as further risk factors, but not severity of dystonic symptoms. Excessive daytime sleepiness was rare in CD and BL (6%). With a frequency of 45%, impairment of sleep quality is common in focal dystonia and associated with symptoms of depression, bruxism, and RLS. Results in CD and BL patients are similar, pointing to an intrinsic mechanism of sleep disturbances rather than a direct effect of dystonic muscle activity. Further studies on sleep in focal dystonia, including polysomnographic recordings, are warranted.

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Section: Discussionmentioning

confidence: 94%

Impaired sleep quality and restless legs syndrome in idiopathic focal dystonia: a controlled study

et al. 2011

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“…A diagnosis of dystonia was made following previously published criteria 1,15 : 1) definite: muscle contractions producing characteristic twisting, flexion, or extension movements and postures consistently present; 2) probable: movements and postures of insufficient intensity or consistency to merit classification as definite; 3) possible: muscle contractions not considered abnormal but remotely suggestive of dystonia; 4) no dystonia. All examined family members were diagnosed in a three-step process: first, by onsite examination including information about pedigree structure and medical history (A.S.); second, by blinded independent video review by four movement disorders specialists (E.A., J.H., C.K., and A.M.), one of whom is an expert in MD (E.A.…”

Section: Questionnaires Risk Factors and Statistical Analysesmentioning

confidence: 99%

Etiology of musician’s dystonia

Schmidt¹,

Jabusch²,

Altenmüller³

et al. 2009

Neurology

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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 [FHϪ]) 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 ϭ 8, other FTSD: n ϭ 9, other dystonias: n ϭ 2), 5 of whom were members of FHϪ 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. Neurology ® 2009;72:1248-1254 GLOSSARY BIDS ϭ Beth Israel Dystonia Screen; FH؉ ϭ reported positive family history of focal task-specific dystonia; FH؊ ϭ no known family history of focal task-specific dystonia; FTSD ϭ focal task-specific dystonia; MD ϭ musician's dystonia; WC ϭ writer's cramp.Musician's dystonia (MD), a type of focal task-specific dystonia (FTSD), presents with painless muscular incoordination or loss of voluntary motor control of extensively trained movements when a musician is playing his or her instrument. It is usually confined to a limb or embouchure.1-4 The frequency of MD is estimated at about 1% among professional musicians; it is highly disabling and in many cases terminates performance careers. 1While the pathophysiology remains largely elusive, MD has been associated with intensive training regimes and thus been considered a form of occupational cramp. However, the epidemiology also suggests a possible hereditary component: 10% of patients with MD report a positive family history of dystonia.1 Clinical examination of relatives of patients with other forms of focal dystonia revealed even

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“…The DYT1, DYT6, DYT7, and DYT13 genes are associated with primary or pure dystonia. 5,6 DYT6 is a dominantly inherited dystonia that causes an early-onset primary torsion dystonia with a sex independent penetrance of 60%. 7 Originally defined in 2 Amish-Mennonite families, DYT6 is equally likely to start in the craniocervical region as in the legs, and in the majority of cases spreads to involve both body parts.…”

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confidence: 99%