Clinical Reasoning: A demure teenager and her dystonic foot

A 13-year-old girl presented with a 4-year history of abnormal gait. At age 9, her parents noticed that she would run awkwardly "on the balls of her feet" and subsequently, that the rhythm of her running would break down with sustained exercise. There was no diurnal variation in her symptoms. There was no history of perinatal insults and early development was normal. There was no significant medical or psychiatric comorbidity and her family history was unremarkable. Examination of the patient's gait is demonstrated in video 1 at
Source: Neurology - Category: Neurology Authors: Tags: Dystonia, Parkinson's disease/Parkinsonism, All Pediatric, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

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Source: Medgadget - Category: Medical Devices Authors: Tags: Diagnostics Genetics News Source Type: blogs
Conclusions: We suggest that patients with dystonia have abnormal homeostatic inhibitory plasticity within the sensorimotor cortex and that this is responsible for their paradoxical response to high ‐frequency repetitive sensory stimulation. © 2018 International Parkinson and Movement Disorder Society
Source: Movement Disorders - Category: Neurology Authors: Tags: Research Article Source Type: research
CONCLUSIONS: RC-IPGs can provide DBS patients with long-term therapeutic benefit while minimizing the need for battery replacement surgery. The authors have implanted rechargeable stimulators in 206 patients undergoing DBS surgery, and here they demonstrate the cost-effectiveness and high patient satisfaction associated with this procedure. PMID: 30265199 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery - Category: Neurosurgery Authors: Tags: J Neurosurg Source Type: research
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Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
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Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
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Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
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Source: Parkinsons Disease - Category: Neurology Tags: Parkinsons Dis Source Type: research
Recently we have published a case report describing a 10-year-old child who had juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment. Whole exome sequencing showed compound heterozygosity for two ATP13A2 novel mutations supporting the diagnosis of ATP13A2-related juvenile-onset Parkinson disease [1]. Subsequently, a letter was published with comments related to our publication [2]. Herein, we respond to the comments and queries raised in that letter.
Source: Brain and Development - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
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During the past two decades, deep brain stimulation (DBS) has been recognized as an efficient therapy that alleviates the symptoms of various treatment-resistant movement disorders such as Parkinson ’s disease (PD), dystonia, and tremor (Lyons, 2011; Vidailhet et al., 2013; Aviles-Olmos et al., 2014; Fasano et al., 2014; Kalia et al., 2013; Larson, 2014). Recent reports suggest that DBS can also be effective for treating psychiatric disorders such as depression, obsessive-compulsive disorder, Tourette’s syndrome (Holtzheimer and Mayberg, 2011) as well as dementia-related disorders and Alzheimer’s disease ...
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research
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