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Introduction: Dystonia can present in primary and secondary forms, depending on co-occurring symptoms and syndromic associations. In contrast to primary dystonia, secondary forms of dystonia are often associated with lesions in the putamen or globus pallidus. Such disorders are commonly neurodegenerative or neurometabolic conditions which produce varied neurologic as well as systemic manifestations other than dystonia. Chemo-denervation with botulinum toxin has been successfully used for focal or segmental dystonia. However, studies evaluating the effect of BoNT therapy on patients with secondary dystonia are sparse, given the heterogeneity in etiology and presentation. Methods: We present a series of patients with secondary dystonia who were managed with botulinum toxin therapy. Patients included in this series had a confirmed neurometabolic cause of dystonia. Results: A total of 14 patients, with ages ranging from 17 to 36 years, with disorders including Wilson's disease, pantothenate kinase-associated neurodegeneration (PKAN), Niemann–Pick disease type C (NPC), glutaric aciduria type 1, Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and GM2 gangliosidosis (Sandhoff disease) are presented. Most patients experienced a mild to moderate improvement in treated dystonia with benefits ranging from 6 to 12 weeks, with the median length of the benefits lasting approximately eight weeks, without any significant adverse effects. Conclusion: Although the secondary causes of dystonia are complex and diverse, our presented data and the available reports of the use of botulinum toxin support the conclusion that chemo-denervation plays an important role in symptom alleviation. [ABSTRACT FROM AUTHOR]

Background and Objectives: The clinical diagnosis of Huntington disease (HD) is typically made once motor symptoms and chorea are evident. Recent reports highlight the onset of cognitive and psychiatric symptoms before motor manifestations. These findings support further investigations of cognitive function across the lifespan of HD sufferers.Methods: To assess cognitive symptoms in the developing brain, we administered assessments from the National Institutes of Health Toolbox Cognitive Battery, an age-appropriate cognitive assessment with population norms, to a cohort of children, adolescents and young adults with (gene-expanded; GE) and without (gene-not-expanded; GNE) the trinucleotide cytosine, adenine, guanine (CAG) expansion in the Huntingtin gene. These five assessments that focus on executive function are well validated and form a composite score, with population norms. We modelled these scores across age, and CAP score to estimate the slope of progression, comparing these results to motor symptoms.Results: We find significant deficits in the composite measure of executive function in GE compared with GNE participants. GE participant performance on working memory was significantly lower compared with GNE participants. Modelling these results over age suggests that these deficits occur as early as 18 years of age, long before motor manifestations of HD.Conclusions: This work provides strong evidence that impairments in executive function occur as early as the second decade of life, well before anticipated motor onset. Future investigations should delineate whether these impairments in executive function are due to abnormalities in neurodevelopment or early sequelae of a neurodegenerative process. [ABSTRACT FROM AUTHOR]

1. Using a case based approach, participants will be able to distinguish between different types of movement disorders in children with serious neurological impairments. 2. Using a case based approach, participants will learn different pharmacological and non pharmacological management techniques for movement disorders in children with serious neurological impairments. Children with serious neurological impairment can demonstrate an array of movements, including spasticity, dystonia, chorea, and stereotypy. These movements can impact quality of life. Thru a series of case studies, this session will focus on how to accurately characterize and treat different types of movements commonly seen in children with serious neurological impairments. Children with serious neurological impairments may demonstrate an array of movement disorders, including spasticity, dystonia, myoclonus, chorea, and stereotypy. Distinguishing between these different phenomena is challenging. Furthermore, movement disorders are frequently confused with other paroxysmal neurological disorders, such as seizures or paroxysmal sympathetic hyperactivity. Movement disorders can be distressing to caregivers. While some movements disorders only require reassurance, others may cause significant discomfort, lead to physical injury, make it difficult to help the child with activities of daily living, or have other negative effects on quality of life. Accurate characterization of movement phenomena is essential to guiding treatment. Thru a series of case studies, this session will focus on how to distinguish between different types of movements commonly seen in children with serious neurological impairments. Discussion will include practical tips, as well as pharmacological and non-pharmacological treatment strategies in both the hospital and home settings Disease specific management Managing Suffering and Distress [ABSTRACT FROM AUTHOR]

Combined dorsal and ventral rhizotomy is an effective treatment for patients with concurrent spasticity and dystonia, with the preponderance of complaints relating to their lower extremities. This operative approach provides definitive relief of hypertonia and should be considered after less-invasive techniques have been exhausted. Previously, the surgery has been described through an L1-S1 laminoplasty. In this series, 7 patients underwent a conus-level laminectomy for performing a lumbar dorsal and ventral rhizotomy. Technical challenges included identifying the appropriate-level ventral roots and performing the procedure in children with significant scoliosis. Techniques are described to overcome these obstacles. The technique was found to be safe, with no infections, CSF leaks, or neurogenic bladders.