Focal shoulder-elevation dystonia

Wright, R. Alan; Ahlskog, J. Eric

doi:10.1002/1531-8257(200007)15:4<709::aid-mds1017>3.0.co;2-4

Cited by 35 publications

(33 citation statements)

References 11 publications

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“…Besides the analogy of ultrasound and mRNA findings some clinical parallels with cervical dystonia can be recognized. Tonic shoulder elevation with hypertrophy of neck muscles identified in all of our patients is a common finding in patients with cervical dystonia15, 16 and was recognized as an isolated symptom of cervical dystonia 17. This abnormal posture was fixed rather than dynamic in our patients, however, and persisted during head support and at rest that distinguishes them from the majority of patients with idiopathic cervical dystonia.…”

Section: Discussionsupporting

confidence: 48%

Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

et al. 2002

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Some patients with cervical disc herniation suffer from persistent nuchal pain and muscle spasms after decompressive surgery despite the lack of clinical and radiological signs for actual spinal root compression. Sonographic examination of the brain in some of these patients showed increased echogenicity of the lentiform nuclei as described in patients with idiopathic dystonia. This has been linked to an altered Menkes protein level and copper metabolism. We suggest a relationship between persistent nuchal pain after adequate cervical disc surgery and dystonic movement disorders. Thirteen patients with persistent nonradicular nuchal pain after at least one cervical disc surgery and without evidence of continuing spinal root compression and 13 age-matched controls were included. All patients had a complete neurological examination, ultrasound, and MRI scan of the brain. In addition, Menkes protein mRNA levels of leucocytes were analyzed in patients and controls. All patients with persistent nuchal pain exhibited a constant tonic unilateral shoulder elevation associated with an ipsilateral hypertrophy of the trapezius muscle. Ultrasound examination showed an increased echogenicity of the lentiform nucleus in one patient unilaterally and in 10 patients bilaterally but in none of the controls. On MRI the T2-values of the lentiform nuclei were found to be higher in patients exhibiting a hyperechogenicity of the lentiform nuclei compared to controls (P = 0.01). In addition, Menkes protein mRNA levels were decreased in patients with cervical disc herniation (P = 0.03). Clinical, neuroimaging, and biochemical findings of this selected patient sample with chronic nuchal pain and muscle spasms after cervical disc surgery resemble alterations in patients with idiopathic cervical dystonia. This suggests a link between both disorders. A peripheral trauma to the nerve roots may precipitate dystonic movements in susceptible patients and chronic dystonic muscle contraction would account for the persistent nuchal pain.

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Section: Discussionsupporting

confidence: 48%

Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

et al. 2002

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“…Unlike previous studies, 2-4 we did not use self reported family histories to identify dystonia among unexamined relatives because this method may be highly insensitive and incurs the risk of misclassifying relatives. 10 Finally, we rejected subtle motor findings presenting a diagnostic challenge [11][12][13] and isolated postural tremor of the hands 14 as phenotypic presentations of dystonia. In our sample four relatives presented exclusively with bilateral arm tremor, fulfilling the diagnostic criteria for ET.…”

Section: Discussionmentioning

confidence: 99%

“…10 Dystonia was diagnosed when slow dystonic movements and definitely abnormal postures occurred at rest or were activated by specific tasks. 1 Diagnosis of dystonia was not assigned to excessive blinking with no evidence of the Charcot's sign, 11 isolated apraxia of eyelid opening, 12 unusual tight hand gripping with writing or other manual activities, 11 shoulder elevation without significant limitation of shoulder movement, 13 or isolated head/upper limb tremor with no signs of dystonia. 14 According to the consensus statement of the Movement Disorder Society on Tremor, 14 subjects presenting exclusively with persistent bilateral, largely symmetrical, postural, or kinetic tremor involving hands and forearms were given a diagnosis of essential tremor (ET).…”

Section: Methodsmentioning

confidence: 99%

A family study on primary blepharospasm

Defazio

Martino

Aniello

et al. 2006

Journal of Neurology, Neurosurgery & Psychiatry

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Background: Previous family studies provided evidence that blepharospasm (BSP) can aggregate in families but did not give accurate and reliable information on the characteristics and degree of familial clustering. Aim: To evaluate the proportion of familial and non-familial BSP cases, the clinical expression of dystonia within families, the inheritance pattern, and the extent of penetrance. Methods: The study was based on the examination of the first degree relatives of 56 probands with primary BSP. Results: The 56 families produced a potential population of 436 first degree relatives of whom 296 were alive and 233 were examined. The proportion of index patients with at least one first degree relative affected by BSP, or adult onset dystonia other than BSP, was 27%. There was a remarkable degree of phenotypic variability of dystonia within families. Similar segregation ratios were calculated for probands' siblings and children. Under the assumption of autosomal dominant transmission of adult onset dystonia, penetrance was about 20%. Conclusions: The findings of this family study are relevant for accurately counselling the families of patients with BSP and may help identify the most appropriate study design to explore genetic susceptibility in BSP.

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“…Since genetic research studies should rely on correct diagnoses, we explicitly avoided using family history reported by proband for identifying dystonia among unexamined relatives because this method may be highly insensitive and incurs the risk of misclassifying relatives affected by movement disorders other than dystonia [26]. Nor did we consider as definite dystonia subtle motor findings presenting a diagnostic challenge [20][21][22][23]. A further bias may have arisen from examining only a proportion of relatives, a common problem in late-onset disorders.…”

Section: Discussionmentioning

confidence: 99%

“…A diagnosis of dystonia was not attributed to motor findings that are not considered into the full spectrum of dystonia. These were excessive blinking with no evidence of the Charcot's sign [20], isolated apraxia of eyelid opening [21], unusual tight hand gripping with writing or other manual activities [20], shoulder elevation without significant limitation of shoulder movement [22], and isolated tremor with no signs of dystonia [23]. All relatives considered to be affected were videorecorded.…”

Section: Subjectsmentioning

confidence: 99%