A new screening tool for cervical dystonia

Saunders‐Pullman, Rachel; Soto-Valencia, Jeannie; Costan-Toth, C.; Shriberg, Janet; Raymond, Deborah; Derby, Carol A.; Lipton, RB; Bressman, Susan

doi:10.1212/01.wnl.0000166030.05756.9f

Cited by 16 publications

(16 citation statements)

References 15 publications

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“…Since most patients first seek attention from their primary care providers, this audience seems particularly important. Fortunately, a simple 5 item screening questionnaire is available with high sensitivity and specificity to aid in the diagnosis of CD (14), and video demonstrations of the key features are available through online resources (e.g. www.neurotoxininstitute.com).…”

Section: Discussionmentioning

confidence: 99%

How long does it take to diagnose cervical dystonia?

Tiderington

Goodman

Rosén

et al. 2013

Journal of the Neurological Sciences

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Background Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. The neck is among the most commonly affected regions, and diagnosis can be made readily through a simple clinical evaluation. The goal of this study was to explore how long it took patients to receive a diagnosis of cervical dystonia after symptom onset. Methods A structured questionnaire was administered at outpatient clinics of a tertiary care academic medical center to 146 consecutively evaluated patients. The questionnaire addressed the length of time from symptom onset to diagnosis, the numbers and types of providers seen before reaching a diagnosis, and treatments attempted prior to receiving botulinum toxin. Results A total of 108 patients saw a mean of 3.5 providers over a mean period of 44 months from symptom onset to diagnosis. For patients with symptom onset in the last decade only, patients saw a mean of 3.0 providers over a mean of 14 months. Conclusions Although cervical dystonia is the most common form of dystonia with clinical features readily identifiable by a simple history and examination, patients typically see multiple providers over more than a year before reaching a diagnosis and receiving optimal therapy. Improved awareness of the clinical features will enable patients to obtain appropriate therapy more rapidly.

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Section: Discussionmentioning

confidence: 99%

How long does it take to diagnose cervical dystonia?

Tiderington

Goodman

Rosén

et al. 2013

Journal of the Neurological Sciences

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“…The severity of the dystonia was rated with the Abnormal Involuntary Movement Scale in the most severely affected limb and the Global Disability Score (table). All other available and consenting family members underwent a telephone interview including the Beth Israel Dystonia Screen (BIDS) (adapted from Saunders-Pullman et al 7 ). If screened positive, the same examinations as described for family members with known dystonia were performed.…”

Section: Methodsmentioning

confidence: 99%

Dominantly transmitted focal dystonia in families of patients with musician’s cramp

Schmidt¹,

Jabusch²,

Altenmüller³

et al. 2006

Neurology

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“…Although superior to family history alone, we cannot fully exclude that a case with dystonia was not detected with the BIDS. While the utility of the BIDS as a screening tool was previously described to identify family members with cervical dystonia only, 13 it is a computer-assisted telephone interview designed to detect many forms of dystonia. The present study demonstrated that the BIDS appears to be an excellent screening instrument also for genetic studies of FTSD but further validation is advisable.…”

Section: Patients and Familiesmentioning

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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A new screening tool for cervical dystonia

Cited by 16 publications

References 15 publications

How long does it take to diagnose cervical dystonia?

How long does it take to diagnose cervical dystonia?

Dominantly transmitted focal dystonia in families of patients with musician’s cramp

Etiology of musician’s dystonia

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