Drug-induced acute dystonia is usually associated with combination therapies of neuroleptics, but rarely with the withdrawal or rebound effect of various psychotrops. Very sparse reports have described acute dystonia as a methylphenidate withdrawal (rebound effect), particularly in combination modalities. However, there is no case report or research regarding acute dystonia related to the withdrawal of the short-acting methylphenidate-immediate release form (MPH-IR) in the case of monotherapy of MPH-IR or a combination with guanfacine. Herein, a pediatric case of recurrent acute dystonia with two separate phenomena, locating orolingual and oromandibular/lower extremities, is presented as a withdrawal adverse reaction occurring after abrupt discontinuation of MPH-IR when under a combination therapy with guanfacine. Various options such as anticholinergic agents, re-administrating MPH, or turning to monotherapy from combination modalities, can be suggested in treatment, as well as only hydration may also have the benefit of resolving the symptoms, as in the current case. Practitioners should be aware of all possible adverse effects of MPH, even the rebound effect of short-acting forms.

BACKGROUND: 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.
CONCLUSIONS: 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.

UNASSIGNED: Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation.
UNASSIGNED: Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias.
UNASSIGNED: We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents. Neurological examination revealed right lateral scoliosis of the neck and generalised dystonic posturing affecting both upper and lower limbs. MRI of the brain was unremarkable. Molecular genetic results revealed a heterozygous variant in the CACNA1A gene (CHR19: NM_023035.2, c. 1602G>A; p. Met534Ile). Segregation analyses in both the parents revealed wild-type CACNA1A gene suggesting de novo nature of the variant with a likely pathogenic classification.
UNASSIGNED: Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations and we recommend that this gene either be included in the dystonia panel offered or tested when the initial primary genetic result is negative.

Intrathecal baclofen (ITB) is an effective treatment for hypertonia in children involving the implantation of a pump and catheter system. The highest concentration of ITB is at the catheter tip. The catheter tip location is most commonly within the lumbar or thoracic spine. The cervical tip location has traditionally been avoided because of concerns of hypoventilation and pneumonia; however, these complications in cervical compared with thoracic or lumbar placement have not been reliably proven. Some studies have suggested that cervical ITB location better treats upper-extremity hypertonia. There are limited data describing the safety and efficacy of cervical ITB on hypertonia. The authors present a single-institution retrospective case series highlighting the safety and efficacy of using cervical ITB location for the treatment of hypertonia.
Retrospective data analysis was performed for children who underwent continuous dosing cervical ITB between April 2022 and October 2023. Nonmodifiable risk factors, clinical variables, operative characteristics, and adverse outcomes were collected.
This study included 25 patients (8 female). The mean age at implantation was 12.4 years, and the mean operative duration was 90 minutes. The mean Barry-Albright Dystonia Scale score decreased by 9.5 points (p = 0.01). The mean aggregated modified Ashworth scale score in the upper extremities decreased by 2.14 points (p = 0.04), and that in the lower extremities decreased by 4.98 points (p < 0.01). One patient each (4%) had infection and baclofen toxicity. Two patients (8%) had respiratory depression requiring continuous positive airway pressure. There was no incidence of pneumonia or wound dehiscence.
The cervical catheter tip location for ITB is safe, is effective to control tone, and should be considered for the treatment of hypertonia. Larger studies with longer follow-up are necessary to further determine upper-limit dosing safety along with long-term functional benefits in these patients.

UNASSIGNED: Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and parkinsonism have also been described. This review aims to evaluate the array of movement disorders in SSPE, correlating them with neuroimaging findings, disease stages, and patient outcomes.
UNASSIGNED: A comprehensive review of published case reports and case series was conducted on patients with SSPE exhibiting movement disorders other than periodic myoclonus. PRISMA guidelines were followed, and the protocol was registered with PROSPERO (2023 CRD42023434650). A comprehensive search of multiple databases yielded 37 reports detailing 39 patients. Dyken\'s criteria were used for SSPE diagnosis, and the International Movement Disorders Society definitions were applied to categorize movement disorders.
UNASSIGNED: The majority of patients were male, with an average age of 13.8 years. Approximately, 80% lacked a reliable vaccination history, and 39% had prior measles infections. Dystonia was the most common movement disorder (49%), followed by parkinsonism and choreoathetosis. Rapid disease progression was noted in 64% of cases, with a disease duration of ≤6 months in 72%. Neuroimaging showed T2/FLAIR MR hyperintensities, primarily periventricular, with 26% affecting the basal ganglia/thalamus. Brain biopsies revealed inflammatory and neurodegenerative changes. Over half of the patients (56%) reached an akinetic mute state or died.
UNASSIGNED: SSPE is associated with diverse movement disorders, predominantly hyperkinetic. The prevalence of dystonia suggests basal ganglia dysfunction.

SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Here we report a rare case of novel SCN1A mutation presenting as hyperkinetic movement disorder in the form of multifocal dystonia and parakinesia in a 12-year-old boy, which aggravated with the use of sodium channel blockers.

Pantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.
We described a case of a child with PKAN who had developed status dystonicus and was successfully treated with deep brain stimulation (DBS). Based on this rare condition, we analysed the clinical features of PKAN with status dystonicus and reviewed the reasonable management process of this condition.
This case confirmed the rationality of choosing DBS for the treatment of status dystonicus. Meanwhile, we found that children with classic PKAN have a cluster of risk factors for developing status dystonicus. Once children diagnosed with similar neurodegenerative diseases are under status dystonicus, DBS can be active considered because it has showed high control rate of this emergent condition.

BACKGROUND: Sport-related dystonia is a rare form of activity-specific dystonia that can severely impair an athlete\'s ability to perform. Due to a lack of data on the condition, it is difficult to diagnose and often overlooked, and no gold standard treatment has yet been defined.
METHODS: We present a rare and challenging case of sport-related dystonia that affected a 24-year-old male professional soccer player. The patient presented with severe rigidity and dystonia of the right lower-extremity, particularly the ankle and foot. The symptoms set on >1 year prior to the presentation to our outpatient clinic. He began to complain of stiffness and difficulty moving his lower limbs, especially his right leg, initially when playing soccer, but then also when walking normally. On presentation, he was unable to run and walked with difficulty, supporting his body weight only on the outside of his right foot. He also reported a motor trick and reverse motor trick involving the oral musculature in order to move his lower limb more freely.
METHODS: An integrated rehabilitation approach based on postural rehabilitation, neuromuscular rehabilitation, and dental intervention was used to successfully treat this condition. The approach included: (1) postural rehabilitation with the Mézières-Bertelè method to reduce muscular stiffness, (2) neuromuscular re-education with Tai Chi exercises and electromyography-guided biofeedback, and (3) dental intervention and swallowing rehabilitation to limit impaired oral habits (due to the relationship between his impaired lower limb movements and motor tricks of the oral musculature). After 7 months of integrated rehabilitation, the patient returned to professional soccer.
CONCLUSIONS: This case report highlights the potential efficacy of an integrative rehabilitation approach for sports dystonia, particularly in cases where traditional treatments may not be effective. Such an approach could be considered a valuable option in the management of this rare, but debilitating, condition in athletes. Further research is needed to assess the effectiveness of this approach in larger populations.

UNASSIGNED: Oculogyric crisis (OGC) is a dystonic movement disorder of varying durations that manifests as bilateral paroxysmal upward eye deviation accompanied by involuntary blinking, tongue protrusion, and autonomic symptoms. Separately, septo-optic dysplasia (SOD) is a congenital disorder involving hypoplasia of the optic nerve as well as hypothalamic and pituitary abnormalities. In the presented case, we report a case of OGC in the setting of SOD with proposed pathogenesis.
UNASSIGNED: A 27-year-old female presented with a history of SOD (optic nerve hypoplasia and hypopituitarism) with acute, recurrent, painless, bilateral, intermittent, simultaneous tonic conjugate upward eye deviation (i.e., OGC) and dystonic body posturing. She experienced her first episode upon meeting her biological sister for the first time at a loud, crowded public restaurant with continued episodes of OGC increasing in frequency and duration over the subsequent months. She later responded well to treatment with carbidopa/levodopa.
UNASSIGNED: Based on our current understanding of OGC, we hypothesize that acute stressful life events in the setting of prior hypothalamic-pituitary axis dysfunction secondary to SOD could lower the threshold for developing OGC. Although most cases of OGC are idiopathic, various etiologies including medications, stress, and hormonal imbalance have been postulated as possible pathogenic mechanisms. We describe a case of SOD with OGC, and based upon our review of the English language ophthalmic literature, we believe that our case is novel.

UNASSIGNED: Posterior interosseous neuropathy is an uncommon cause of peripheral dystonia.
UNASSIGNED: A 62-year-old man awakened and noticed right finger drop. A neurological examination revealed posterior interosseous neuropathy with dystonia-like finger movements. Abnormal movements were predominantly observed in the right thumb, ring finger, and little finger. Within 2 weeks, the muscle weakness in the right fingers had completely improved. However, a brief abnormal posture of the right thumb was persistent.
UNASSIGNED: The residual abnormal posture of the right thumb may reflect pre-existing motor control abnormalities, which may have contributed to the onset of posterior interosseous neuropathy-associated peripheral dystonia.