Dystonia in Childhood

Pavone, Larissa; Burton, Justin; Gaebler-Spira, Deborah

doi:10.1177/0883073812444312

Cited by 19 publications

(5 citation statements)

References 38 publications

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“…Reduced Shoulder-elbow correlation suggests that the patients may have failed to develop typically early in life. This finding is consistent with characteristics of dystonia such as problems with gradation of movement and positioning of the limb in space 48 . Difficulties in activating the appropriate muscles 49 with the right timing 11 may be additional factors contributing to uncoordinated movements, with possible consequences for functional performance.…”

Section: Discussionsupporting

confidence: 87%

Characteristics of Bilateral Hand Function in Individuals With Unilateral Dystonia Due to Perinatal Stroke

et al. 2014

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We assessed bilateral motor and sensory function in individuals with upper limb dystonia due to unilateral perinatal stroke and explored interrelationships of motor function and sensory ability. Reach kinematics and tactile sensation were measured in seven participants with dystonia and nine healthy volunteers. The dystonia group had poorer motor (hold time, reach time, shoulder/elbow correlation) and sensory (spatial discrimination, stereognosis) outcomes than the control group on the non-dominant side. On the dominant side, only sensation (spatial discrimination, stereognosis) was poorer in the dystonia group compared to the control group. In the dystonia group, although sensory and motor outcomes were uncorrelated, dystonia severity was related to poorer stereognosis, longer hold and reach times, and decreased shoulder/elbow coordination. Findings of bilateral sensory deficits in dystonia may be explained by neural reorganization. Visual compensation for somatosensory changes in the non-stroke hemisphere may explain the lack of bilateral impairments in reaching.

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Section: Discussionsupporting

confidence: 87%

Characteristics of Bilateral Hand Function in Individuals With Unilateral Dystonia Due to Perinatal Stroke

et al. 2014

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“…A thorough neurological examination in combination with valid and reliable scales assist the clinician in objectively quantifying dystonia. In this paper we briefly review some of the common clinical scales used to diagnose and quantify the severity of dystonia (for an extensive review see 42) .…”

Section: Discussionmentioning

confidence: 99%

Current and emerging strategies for treatment of childhood dystonia

Bertucco

Sanger

2015

Journal of Hand Therapy

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Childhood dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contractions causing twisting and repetitive movements, abnormal postures, or both (Sanger et al. 2003). Dystonia is a devastating neurological condition that prevents the acquisition of normal motor skills during critical periods of development in children. Moreover, it is particularly debilitating in children when dystonia affects the upper extremities such that learning and consolidation of common daily motor actions are impeded. Thus, the treatment and rehabilitation of dystonia is a challenge that continuously requires exploration of novel interventions. This review will initially describe the underlying neurophysiological mechanisms of the motor impairments found in childhood dystonia followed by the clinical measurement tools that are available to document the presence and severity of symptoms. Finally, we will discuss the state-of-the-art of therapeutic options for childhood dystonia, with particular emphasis on emergent and innovative strategies.

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“…Although none have been validated in MSD or other leukodystrophies, there are standardized scales for measuring and tracking issues with tone. The Hypertonia Assessment Tool (HAT) can differentiate between types of tone abnormalties, including dystonia, spasticity, and rigidity (28). The Modified Ashworth Scale (MAS) is a tool to measure passive resistance at the joint (29).…”

Section: Comprehensive Care For Children With Msdmentioning

confidence: 99%

“…The Modified Ashworth Scale (MAS) is a tool to measure passive resistance at the joint (29). Dystonia, a hyperkinetic movement disorder that results in involuntary muscle contraction, is common among children with leukodystrophies and can be measured using the Global Dystonia Rating Scale (GDS) (23, 28, 30). A more generalizable measure of function, the Vineland Scales of Adaptive Behavior, can be used to screen young children or those with significant impairments (31).…”

Section: Comprehensive Care For Children With Msdmentioning

confidence: 99%

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Ahrens‐Nicklas

Schlotawa

Ballabio

et al. 2018

Molecular Genetics and Metabolism

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Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype that has not been fully characterized to date. In this report, we describe two individuals with distinct clinical presentations of MSD. Also, we detail a comprehensive systems-based approach to the management of individuals with MSD, from the initial diagnostic evaluation to unique multisystem issues and potential management options. As there have been no natural history studies to date, the recommendations within this report are based on published studies and consensus opinion and underscore the need for future research on evidence-based outcomes to improve management of children with MSD.

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Dystonia in Childhood

Cited by 19 publications

References 38 publications

Characteristics of Bilateral Hand Function in Individuals With Unilateral Dystonia Due to Perinatal Stroke

Characteristics of Bilateral Hand Function in Individuals With Unilateral Dystonia Due to Perinatal Stroke

Current and emerging strategies for treatment of childhood dystonia

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

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