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Task-specific focal dystonia (TSFD), characterized by the loss of fine motor control and coordination, affects drummers' lower-limb movements. This study explores lower-limb dystonia's impact on drumming performance and underlying muscle activity in a professional rock drummer. The drummer executed an eight-beat pattern on a drum kit. The participant reported the occurrence of symptoms when he felt the abnormality such as the loss of control related to involuntary aspects of movement. We measured the peak amplitude of the bass drumhead vibration, synchronization errors as the time elapsed between the metronome onset and the bass drum onset, and amplitude of electromyographic (EMG) recordings centered on metronome beat. Dystonia symptoms primarily manifested in the initial beat, with fewer symptoms on syncopation of the third beat. Analysis revealed decreased bass-drum peak amplitude and earlier synchronization error during the initial beat. EMG measurements of 10 muscles in the affected right lower limb showed significant changes in the Biceps Femoris (BF), Tibialis Anterior (TA), Extensor Digitorum Longus (EDL), and Extensor Digitorum Brevis (EDB) muscles during symptom onset. We observed (1) earlier overactivation of the TA and EDL muscles during the leg lift-up motion or preparatory phase of pedaling, (2) reduced activation of the EDB muscle, and (3) increased activation of the BF muscle during the final pedaling movement when symptoms occurred. These findings suggest that lower-limb dystonia symptoms are characterized by a reduction in amplitude of the bass drumhead vibration and an increase in synchronization error, potentially due to premature overactivation of the ankle dorsiflexor muscles.

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INTRODUCTION: Cervical dystonia (CD) causes involuntary movements and postures of the head, neck, and shoulders, as well as nonmotor symptoms including pain, mood, and sleep dysfunction, and impacts quality of life. The first-line treatment for CD is botulinum neurotoxin (BoNT) injections. AREAS COVERED: The clinical presentation and diagnosis of CD, as well as where BoNT resides in the treatment landscape, is reviewed first. Next, the mechanism of action and the pharmacological differences in the available preparations of BoNT products are explained. The evidence base for motor and nonmotor efficacy and safety of the available BoNT formulations is reviewed, with attention to duration of benefit as a driver of patient satisfaction. Practical determinants of BoNT efficacy are reviewed including muscle selection, accurate muscle injection, factors related to poor or deteriorating response, and immunogenicity. EXPERT OPINION: BoNT represents a significant advancement in the treatment of CD. More accurate diagnosis, muscle selection and targeting, and dosing can improve outcomes with existing BoNT formulations. Further refinement of BoNT potency, duration of action, safety, and immunogenicity will help reduce unmet needs in the magnitude and duration of benefit. Additional validation of DBS and MRI-guided focused ultrasound may expand options for patients with toxin nonresponse.

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Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients.

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BACKGROUND: Musician's focal dystonia (mFD) is a rare, neurological, task-specific disorder that mainly affects the upper extremity (especially the hands) and generally appears as a painless muscular incoordination that can mark the end of a musician's professional career. The present literature review intends to highlight the current understanding of musician's focal dystonia, its underlying neural mechanisms and the role of prevention and treatment in physiotherapy, psychotherapy and other fields as occupational therapy. PURPOSE: The aim of the present literature review was to gain an overview of mFD in the medical, psychological and physical therapy literature and investigate what strategies for diagnosis and rehabilitation are available today. STUDY DESIGN: The present article is a literature review, based on the search for full-text publications with the goal of comparing the main strategies for mFD rehabilitation and prevention presented in the literature. METHODS: This literature review compared many relevant papers and studies available in literature today for mFD epidemiology, neural mechanisms, treatment and prevention, to discuss what we know today and highlight the aspects that can still be enhanced in the future. RESULTS: According to our results, current literature gives a good understanding of mFD epidemiology, but further studies are needed to fully comprehend the neurological aspects and develop more rehabilitation strategies, especially in the psychological field. Our research also highlighted the need for a multidisciplinary approach that considers both physical and psychological aspects. CONCLUSIONS: Physical rehabilitation strategies are helpful but, considering the amount of psychological aspects involved in mFD, a holistic approach should be considered and developed in the future. Finally, prevention must have a primary role in mFD treatment, raising awareness around it and, possibly, avoiding its development.

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Despite being less commonly discussed than other motor symptoms such as tremors and bradykinesia, hypertonia of the hallux holds diagnostic and prognostic significance in Parkinson's disease (PD). This motor anomaly is dissected within the context of the broader clinical spectrum of PD symptoms, emphasizing its importance alongside its cardinal symptoms. This case report underscores the importance of accurate clinical assessment especially thorough neurological evaluation in discerning hallux hypertonia, potentially enabling early disease recognition and intervention. By synthesizing these clinical insights, we trust that this case report contributes to an enhanced understanding of hypertonia of the hallux as a distinctive clinical presentation in PD fostering improved diagnostic precision.

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BACKGROUND: Pain is a common non-motor symptom in patients with cervical dystonia (CD), severely impacting their quality of life. The pathophysiology of CD is incompletely understood but it involves altered processing of proprioceptive and pain signals. OBJECTIVES: The purpose of this proof-of-concept study was to determine if vibro-tactile stimulation (VTS)-a non-invasive form of neuromodulation targeting the somatosensory system-can modulate neck pain in people with CD. METHODS: In a multi-center study, 44 CD patients received VTS to sternocleidomastoid and/or trapezius muscles for up to 45 min under 9 different stimulation conditions that either targeted a single or a pair of muscles. The primary outcome measure was a perceived pain score (PPS) rated by participants on a 100-point analogue scale. RESULTS: During VTS, 29/44 (66%) of participants experienced a reduction in PPS of at least 10% with 17/44 (39%) reporting a reduction in pain of 50% or higher. After VTS cessation, 57% of participants still reported a 10% or higher reduction in PPS. Effects were significant at the group level and persisted for up to 20 min post-treatment. No distinct optimal stimulation profiles were identified for specific CD phenotypes. Clinical markers of disease severity or duration did not predict the degree of VTS-induced pain reduction. CONCLUSION: This proof-of-concept study demonstrates the potential of VTS as a new non-invasive therapeutic option for treating neck pain associated with CD. Further research needs to delineate optimal dosage and long-term effects.

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A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease's etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson's disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.

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Apraxia of eyelid opening (AEO) is occasionally seen in Parkinson's disease (PD) or related diseases. However, many clinicians have trouble with the management of AEO by Parkinsonism. In this report, we describe a case of AEO in Parkinsonism improved by trihexyphenidyl (THP). The patient was a 64-year-old woman, who was previously healthy but developed bradykinesia. She was clinically diagnosed as PD due to an L-dopa challenge test, but no other detailed tests were performed. She started antiparkinsonian medications and her symptoms were improved at an early phase. However, her motor symptoms were gradually exacerbated over time, and antiparkinsonian medications were dosed up. At 69 years old, blepharospasm and AEO developed. Although other antiparkinsonian medications did not improve her AEO, THP cured AEO dramatically at 73 years old. In this report, we discuss a mechanism of AEO by Parkinsonism and the pathway of THP for the improvement of AEO.

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Progressive supranuclear palsy (PSP) is a neurodegenerative condition that typically emerges in adulthood and does not exhibit any familial inheritance pattern. PSP is characterized by gradual stiffness in the central body, an inability to move the gaze upward voluntarily, postural instability, and a decline in cognitive function linked to frontal lobe dysfunction. Clinical assessment reveals a variety of findings, and cases of PSP frequently go unnoticed or are incorrectly diagnosed as other conditions. Notably, prominent neurotransmitter-related changes in PSP involve damage to the dopaminergic nigrostriatal pathway and cholinergic impairment in multiple regions. We hereby present a case of a 71-year-old female patient whose medical journey unfolds as a perplexing riddle. Despite the collective expertise of several physicians, she found herself bearing the weight of a misdiagnosis ascribed to Parkinson's Disease (PD) erroneously. She initially presented with recurring falls due to postural instability and bradykinesia, which progressed such that she became dependent on a walking aid. A comprehensive physical examination revealed indicators consistent with PSP.

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BACKGROUND: The objective of this study was to provide evidence from a simple simulation. In patients with focal dystonia, an initial good response to botulinum neurotoxin (BoNT) injections followed by a secondary worsening does not necessarily arise from an antibody-induced secondary treatment failure (NAB-STF), but may stem from a "pseudo"-secondary treatment failure (PSEUDO-STF). METHODS: The simulation of the outcome after BoNT long-term treatment was performed in four steps: 1. The effect of the first single BoNT injection (SI curve) was displayed as a 12-point graph, corresponding to the mean improvement from weeks 1 to 12. 2. The remaining severity of the dystonia during the nth injection cycle was calculated by subtracting the SI curve (weighted by the outcome after n - 1 cycles) from the outcome after week 12 of the (n - 1)th cycle. 3. A graph was chosen (the PRO curve), which represents the progression of the severity of the underlying disease during BoNT therapy. 4. The interaction between the outcome during the nth BoNT cycle and the PRO curve was determined. RESULTS: When the long-term outcome after n cycles of BoNT injections (applied every 3 months) was simulated as an interactive process, subtracting the effect of the first cycle (weighted by the outcome after n - 1 cycles) and adding the progression of the disease, an initial good improvement followed by secondary worsening results. This long-term outcome depends on the steepness of the progression and the duration of action of the first injection cycle. We termed this response behavior a "pseudo"-secondary treatment failure, as it can be compensated via a dose increase. CONCLUSION: A secondary worsening following an initial good response in BoNT therapy of focal dystonia might not necessarily indicate neutralizing antibody induction but could stem from a "PSEUDO"-STF (a combination of good response behavior and progression of the underlying disease). Thus, an adequate dose adaptation must be conducted before diagnosing a secondary treatment failure in the strict sense.

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This case series provides a diagnosis of myoclonus-dystonia syndrome (MDS) in two patients whose original presentation was thought to be Tourette's syndrome. The first patient presented with dystonia and myoclonus, which progressively worsened with age, and was diagnosed with an epsilon-sarcoglycan gene (SGCE) mutation. The patient's father, who was diagnosed in his childhood with Tourette's syndrome, also received genetic testing, which proved that to be a misdiagnosis and confirmed that he was the carrier of the SGCE mutation. Both patients were subjected to a levodopa trial, which proved to be an effective treatment. To our knowledge, these are the first reported cases of heterozygous pathogenic mutation of SGCE in Puerto Rico.

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BACKGROUND: The pathophysiology of adductor laryngeal dystonia (AdLD) remains unknown; however, there is growing evidence that dystonia is associated with disruptions in the inhibitory regulation of sensorimotor cortical areas. Using functional MRI (fMRI) and transcranial magnetic stimulation (TMS) complementarily, we previously demonstrated an overly activated laryngeal motor cortex and revealed correlations between blood-oxygen-level dependent (BOLD) activation and intracortical inhibition in a phonation (dystonia-related) task in adductor laryngeal dystonia (AdLD). OBJECTIVE: Here, we aimed to characterize the brain-based findings in the primary motor cortex (M1) during a dystonia-unrelated (finger tapping) task in AdLD and controls (CTL). METHODS: We examined the between-group differences in task-dependent BOLD activation and intracortical inhibition, measured by the TMS-evoked cortical silent period (cSP), in the M1. The correlations between fMRI and TMS responses were assessed. RESULTS: There is more broadly dispersed BOLD activation, not confined to the hand motor cortex, and reduced intracortical inhibition in AdLD compared to CTL. Further, there are more positive correlations between cSP and BOLD activation in a task unrelated to dystonic symptoms in AdLD compared with CTL. This is in contrast to our previous work that demonstrated fewer positive correlations in AdLD during a dystonic phonation task. CONCLUSIONS: In unaffected musculature activation, there is dispersed BOLD activation that is correlated with intracortical inhibition suggesting a possible compensatory strategy in the non-dystonic muscles.

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We report a case of task-specific dystonia characterized by involuntary flexion of the ring finger. After resecting the flexor of the ring finger, the flexor digitorum profundus of the middle finger was transferred to the resected site.

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Among the abnormal kyudo movements ("yips"), "motare" is the inability to release the arrow at the intended timing if aiming the target. We hypothesized that "motare" is a task-specific focal dystonia (TSFD). We interviewed three participants with "motare," three participants with "hayake", and three controls without "motare" nor "hayake". Moreover, we conducted a surface electromyography (sEMG) examination and found that "motare" was characterized by stereotypy, sensory tricks, and morning benefit; however, these findings were not observed in "hayake". Abnormal co-contraction of the upper extremity antagonist muscles was observed in one of the three "motare" participants. Overall, these findings suggest that "motare" have the characteristics of TSFD not previously reported.

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The aim of this study was to detect clinical hints regarding the development of secondary treatment failure (STF) in patients with focal dystonia who were exclusively treated with incobotulinumtoxin/A (incoBoNT/A). In total, 33 outpatients (26 with idiopathic cervical dystonia, 4 with Meige syndrome and 3 with other cranial dystonia) who were treated with repeated injections of incoBoNT/A for a mean period of 6.4 years without interruptions were recruited to draw the course of their disease severity (CoD) from the onset of symptoms to the onset of BoNT therapy (CoDB graph) and from the onset of BoNT therapy to recruitment (CoDA graph). At the time of recruitment, the patients assessed the change in severity as a percentage of the severity at the onset of BoNT therapy. Blood samples were taken to test the presence of neutralizing antibodies (NABs) using the mouse hemidiaphragm assay (MHDA). Patients reported an improvement of about 70% with respect to the mean. None of the patients tested positive for MHDA. Three different types of CoDB and three different types of CoDA graphs could be distinguished. The patients with different CoDB graphs reported different long-term outcomes, but there was no significant difference in long-term outcomes between patients with different CoDA graphs. None of the patients produced a CoDA graph with an initial improvement and a secondary worsening as a hint for the development of STF. A primary non-response was not observed in any of the patients. During long-term treatment with BoNT/A, NABs and/or STF may develop. However, in the present study on patients with incoBoNT/A long-term monotherapy, no hints for the development of NABs or STF could be detected, underlining the low antigenicity of incoBoNT/A.

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To acquire and maintain outstanding sensorimotor skills for playing musical instruments inevitably requires extensive training from childhood. However, on the way toward musical excellence, musicians sometimes develop serious disorders, such as tendinitis, carpal tunnel syndrome, and task-specific focal dystonia. Particularly, task-specific focal dystonia in musicians, which is referred to as musician's dystonia (MD), has no perfect cure and therefore often terminates professional careers of musicians. To better understand its pathological and pathophysiological mechanisms, the present article focuses on malfunctions of the sensorimotor system at the behavioral and neurophysiological levels. Based on emerging empirical evidence, we propose that the aberrant sensorimotor integration, possibly which occurs in both cortical and subcortical systems, underlies not only movement incoordination between the fingers (i.e., maladaptive synergy) but also failure of long-term retention of intervention effects in the patients with MD.

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Adult-onset isolated focal dystonia (AOIFD) is a network disorder characterised by abnormalities of sensory processing and motor control. These network abnormalities give rise to both the phenomenology of dystonia and the epiphenomena of altered plasticity and loss of intracortical inhibition. Existing modalities of deep brain stimulation effectively modulate parts of this network but are limited both in terms of targets and invasiveness. Novel approaches using a variety of non-invasive neuromodulation techniques including transcranial stimulation and peripheral stimulation present an interesting alternative approach and may, in conjunction with rehabilitative strategies, have a role in tailored therapies targeting the underlying network abnormality behind AOIFD.

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Cervical dystonia is a movement disorder characterized by continuous and involuntary muscular contractions that result in aberrant head and neck motions or postures. A recent study indicates that persons with a history of scoliosis may be at a higher risk of acquiring cervical dystonia later in life. Although muscular tension and contraction abnormalities are linked in both illnesses, the pathophysiological pathways linking these two ailments are not entirely understood. A 13-year-old boy previously diagnosed with adolescent idiopathic scoliosis developed symptoms of cervical dystonia, including moderate neck pain, left-sided migraines, and tingling in the neck and shoulders. During the course of three months, the patient attended 16 chiropractic therapy sessions. He reported slow but considerable improvements in his symptoms, such as the recovery of normal cervical range of motion, decreases in neck discomfort and accompanying headaches as well as paresthesia, and enhancements in sleep quality, daily functioning, and learning capacities. The patient's clinical and radiographic improvements show that chiropractic spinal manipulation may assist in reducing pain and improving spine alignment and mobility in these circumstances. To further investigate the efficacy and safety of chiropractic therapy for the treatment of cervical dystonia, particularly in the setting of associated scoliosis, more study with bigger patient populations is required.