Lower limb involvement in adult‐onset primary dystonia: frequency and clinical features

Martino, Da; Macerollo, Antonella; Abbruzzese, Giovanni; Bentivoglio, Anna Rita; Berardelli, Alfredo; Esposito, Marcello; Fabbrini, Giovanni; Girlanda, Paolo; Guidubaldi, Arianna; Liguori, Rocco; Liuzzi, Daniele; Marinelli, Lucio; Morgante, Francesca; Sabetta, Annarita; Santoro, Lucio; Defazio, Giovanni

doi:10.1111/j.1468-1331.2009.02781.x

Cited by 29 publications

(27 citation statements)

References 17 publications

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“…Second, since we collected data for age at onset retrospectively, some information may have been inaccurate. We consider this unlikely given that we have previously shown that patients achieve high test–retest reliability in reporting age at dystonia onset 16. Although some tremor events documented herein manifested themselves before patient referral to the recruiting centre, some patients were followed-up for several years, and tremor events were recorded during the clinical follow-up.…”

Section: Discussionmentioning

confidence: 85%

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Tremor in primary adult-onset dystonia: prevalence and associated clinical features

Defazio

Gigante

Abbruzzese

et al. 2012

Journal of Neurology, Neurosurgery & Psychiatry

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Tremor is a relatively common feature occurring in about 17% of patients with primary late-onset dystonia. The association between tremor and dystonia spread suggests that this form of tremor may be a dystonic manifestation. Similarities in phenotypic features of DT and TAWD predominated over differences, suggesting that the two forms of tremor may be manifestations of the same disease. Differences in gender and body distribution of tremor between patients with dystonia and tremor and those of patients with essential tremor also suggest that tremor in dystonia and essential tremor are different entities.

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Section: Discussionmentioning

confidence: 85%

“…First, it is not a population-based study. Nevertheless, recruiting consecutive patients in a multicentre setting yielded a large case series that resembles the demographic and clinical features of the Italian PAOD population 16. Second, since we collected data for age at onset retrospectively, some information may have been inaccurate.…”

Section: Discussionmentioning

confidence: 99%

Tremor in primary adult-onset dystonia: prevalence and associated clinical features

Defazio

Gigante

Abbruzzese

et al. 2012

Journal of Neurology, Neurosurgery & Psychiatry

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“…Currently, the most common treatment for any type of lower extremity dystonia includes Botox and trihexyphenidyl. 21 Only 2 cases were found describing nonmedicinal or noninvasive management of task-specific lower extremity dystonia. 3,36 In 1 case, functional electrical stimulation was shown to improve but not fully resolve the patient's gait dysfunction.…”

Section: Treatment Of Runner's Dystoniamentioning

confidence: 99%

“…9,11,16,26,31 Whereas primary focal dystonia is relatively rare, task-specific lower extremity dystonia is even less prevalent. Within a specialized movement-disorder clinic, only 4 (0.7%) of 579 individuals with primary focal dystonia had lower extremity dystonia, 21 and none of these individuals presented with the specific movement pattern described in this case. With growing numbers of runners, including participants in high-mileage events (marathons and ultra-marathons), a higher prevalence of lower extremity dystonia, including runner's dystonia, is likely.…”

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confidence: 99%

Diagnosis of Primary Task-Specific Lower Extremity Dystonia in a Runner

McClinton¹,

Heiderscheit²

2012

J Orthop Sports Phys Ther

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“…It should therefore prompt the physician to evaluate secondary causes of dystonia. Moderate to marked improvement with BoNT is also observed in patients with rare primary lower limb dystonia [Duarte et al 1995;Schneider et al 2006a;Singer and Papapetropoulos, 2006;Martino et al 2010;Pont-Sunyer et al 2010].In summary, treatment with BoNT-A is an effective treatment in many of the focal dystonias, with good evidence in CD and BSP, and is therefore the first-line intervention for most of the focal dystonias. Although BoNT-B has only been thoroughly evaluated in CD, a comparable effect may be expected for the other focal dystonia subtypes but this remains largely unproven.…”

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confidence: 96%

Current and future medical treatment in primary dystonia

Delnooz

Warrenburg

2012

Ther Adv Neurol Disord

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Dystonia is a hyperkinetic movement disorder, characterized by involuntary and sustained contractions of opposing muscles causing twisting movements and abnormal postures. It is often a disabling disorder that has a significant impact on physical and psychosocial wellbeing. The medical therapeutic armamentarium used in practice is quite extensive, but for many of these interventions formal proof of efficacy is lacking. Exceptions are the use of botulinum toxin in patients with cervical dystonia, some forms of cranial dystonia (in particular, blepharospasm) and writer's cramp; deep brain stimulation of the pallidum in generalized and segmental dystonia; and high-dose trihexyphenidyl in young patients with segmental and generalized dystonia. In order to move this field forward, we not only need better trials that examine the effect of current treatment interventions, but also a further understanding of the pathophysiology of dystonia as a first step to design and test new therapies that are targeted at the underlying biologic and neurophysiologic mechanisms. http://tan.sagepub.com dystonia are given intramuscularly, often under electromyography (EMG) guidance, and need to be repeated every 3-6 months. Contraindications for the use of BoNT include history of neuromuscular disease, e.g. myasthenia gravis, LambertEaton syndrome or motor neuron disease, and a history of hypersensitivity to BoNT, albumin or saline. BoNT injections are also contraindicated in combination with aminoglycoside, penicillamine, quinine and calcium-channel blockers as the effect of these drugs may be potentiated. As teratogenicity of BoNT is still unknown, it is advised not to use BoNT during pregnancy and lactation. Keywords Cervical dystoniaBoNT injections are the first-line therapy for cervical dystonia (CD). Meta-analysis of several double-blind, placebo-controlled trials have demonstrated a beneficial effect of the BoNT type A (BoNT-A) versus placebo on multiple domains, such as dystonia severity, pain and the patient's and physician's subjective judgement. Adverse events are usually transient and mild. The most relevant side effects, of increasing frequency with higher doses and therefore dose-limiting, are neck weakness, dysphagia, dry mouth/sore throat and voice changes/hoarseness. Others are doseindependent and include pain at the site of injection, malaise, upper respiratory infection and headache [Costa et al. 2005b].BoNT also has proven long-term safety and efficacy. Several large case series have shown treatment efficacy up to 10 years, without longterm adverse effects [Blackie and Lees, 1990;Haussermann et al. 2004]. The occurrence of a secondary nonresponse, likely due to antibodies to BoNT or other components, was rare (1-2%) [Kessler et al. 1999;Haussermann et al. 2004;Brin et al. 2008]. Also primary nonresponse is seen, but reports documenting its occurrence are sparse [Truong et al. 2005]. A comparison of efficacy and safety between two preparations of BoNT-A, (onabotulinumtoxinA [Botox ® ] and rimabotulinumtoxin...

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Lower limb involvement in adult‐onset primary dystonia: frequency and clinical features

Abstract: The lower limb is an uncommon but possible topographical site of dystonia in adulthood that should be kept in consideration during clinical evaluation.

Cited by 29 publications

References 17 publications

Tremor in primary adult-onset dystonia: prevalence and associated clinical features

Tremor in primary adult-onset dystonia: prevalence and associated clinical features

Diagnosis of Primary Task-Specific Lower Extremity Dystonia in a Runner

Current and future medical treatment in primary dystonia

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