The development and use of an anatomy-based retraining program (MusAARP) to assess and treat focal hand dystonia in musicians-A pilot study.

BACKGROUND: Movement dysfunctions are commonly reported in musicians, and in extreme cases may result in a persisting loss of motor control. This condition, whereby motor control of the hand during previously highly trained movements on the instrument is lost, is termed focal hand dystonia. It is widely considered to be a consequence of prolonged repetitive daily practice, often in combination with exposure to a range of other risk factors. Current literature recommends retraining as a promising treatment intervention, although only scant scientific evidence exists on which components should be included in a retraining program, and how these may be best administered. METHODS: A progressive muscle activation and movement exercise program was devised by one of the authors applying a series of anatomy-based off-instrument movement tasks. This series of fine motor control exercises, was used to both assess and retrain focal hand dystonia in a population of musicians. The standardized approach aimed to provide a systematic method of retraining musically relevant muscular synergies that could later be applied to the instrument, while still allowing individual modifications. Retraining sessions were mostly run online as a consequence of the coronavirus pandemic, although some early sessions were also able to be undertaken face to face. Both qualitative and quantitative measures were used in this case series to evaluate program efficacy, due to the typical heterogeneity of the focal hand dystonia participants. This included: blinded external neurological evaluation of video footage using the Tubiana grading system, written subjective feedback, exercise progressions, and performance outcomes. RESULTS: Pilot testing of 4 patients indicated the utility of the program over approximately a 12- month time period. All subjects improved, 2 of whom have returned to pre-dystonia performance levels. These patients reported the importance of patience and persistence with daily exercise sessions in their recovery. CONCLUSION: Using off-instrument playing-relevant exercises to enhance fine motor control and muscle activation can be effective in retraining focal hand dystonia, regardless of additional treatments or level of performance. They should be regularly practiced and progressed in order for effects to be best progressed to instrumental applications. Further research may elucidate whether there are optimal outcomes with single or particular combinations of treatment approaches.

Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.

Mutations in the lysine methyltransferase 2B (KMT2B) gene have recently been reported to be associated with childhood-onset generalized dystonia. There have been no studies investigating ablative treatments for the management of this disorder. Three patients underwent either a staged unilateral pallidotomy and contralateral pallidothalamic tractotomy (19-year-old man, 2-year follow-up), a unilateral pallidothalamic tractotomy (34-year-old man, 6-month follow-up) or a simultaneous unilateral pallidothalamic tractotomy and ventro-oral thalamotomy (29-year-old man, 6-month follow-up). The average total patient score on the Burke-Fahn-Marsden Dystonia Rating Scale-Movement Scale improved from 39.5 to 13.2 (66.6%) after the procedures. No significant complications were identified. Ablative treatments appear to be a promising alternative surgical option for generalized dystonia with KMT2B mutation.

Status dystonicus: management and prevention in children at high risk.

BACKGROUND: Status dystonicus (SD) is a movement disorder emergency associated with significant morbidity and life-threatening events that requires immediate and effective treatment. Nevertheless, SD is currently an under-recognized and undertreated condition, partly due to the lack of a standard definition and because it can be the acute complicated course of both primary and secondary dystonias. In subjects with SD, due to  the delay of identification and  lacking prevention of trigger and precipitant factors, intensive care management is consistently required. OBJECTIVES: We performed a critical review of this topic, outlining clinical features and linked genetic disorders to recognize subject at higher risk of SD, describing precipitant and trigger factors and proposing potential pharmacological treatment strategies in order to prevent hospitalization. RESULTS: Genetic predisposition included: primary dystonias particularly in the case of  TOR1A mutation; epileptic encephalopathy such as ARX and GNAO1 genetic variants and neurodegenerative disorders as PANK2. Early recognition of SD should be oriented by the following sign and symptoms: fever, tachycardia, respiratory change, hypertension, sweating and autonomic instability, elevated serum CK. Pain, fever and dehydration are main trigger factors that have to be prevented or quickly controlled. Achieving sleep could be the first therapeutic option in those with high risk of developing SD. Recently, enteral or transdermal clonidine as safety and efficacy therapeutic alternative was proposed. CONCLUSION: Recognizing high risk children for Status dystonicus from the onset of subtle signs and avoiding trigger factors could drive towards better management avoiding intensive treatments.

Reversible Pisa Syndrome Induced by Rivastigmine in a Patient With Early-Onset Alzheimer Disease.

Pisa syndrome (PS) is a state of dystonic muscle contraction with a marked truncal deviation to one side. It is an uncommon adverse effect of antipsychotic drugs, but is rarely reported in patients receiving acetylcholinesterase inhibitors, especially rivastigmine. We present a 57-year-old female patient with Alzheimer disease who began to develop symptoms of dementia at the age of 51 years. She was observed to have symptoms of PS after continuous use of rivastigmine (9 mg/d) for nearly 2 years. The PS symptoms improved after the dose of rivastigmine was reduced but recurred when the dose was added back to 9 mg/d. Finally, after we decreased the dose to 4.5 mg/d, her PS symptoms were remitted. This report reminds us that clinicians need to be cautious about the risk of PS when prescribing rivastigmine in a patient with early-onset Alzheimer disease.

Distonía focal en músicos / FOCAL DYSTONIA IN MUSICIANS

The aim of this report was to describe the Focal dystonia in Musicians. Musician´s dystonia is a disorder characterized by abnormal movements, with excessive activation of muscular antagonists or co-contraction of antagonist muscles that are not required for a specific movement. Belongs to the group of occupational dystonias ; is a specific disorder of a determinated task in musicians, that include the absence of voluntary control of movements detailed determinated in the ejecution of an instrument, and manifiests itself by the deteriorization of his dexterity in the ejecution. Dystonia, including all his forms, is the third more frequent pathology of abnormal movements, after Parkinson´s disease and the essential trembling. Musician´s dystonia is a task-specific movement that manifiests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1 % of all professional musicians develop musician´s dystrofia, and in many cases the disorder terminates the careers of affected musicians. Several theories have been referred related to the etiology. The aim of this report was to present the author´s casuistic of Focal dystonia in musicians in Argentina, considering the type of instrument, which kind of music is ejecuted ­classic or popular- and to inform the treatment proposed and the results obtained.

Exercise DVD effect on musculoskeletal disorders in professional orchestral musicians.

BACKGROUND: Professional musicians report a high prevalence of performance-related musculoskeletal disorders (PRMDs). Excessive muscle tension and fatigue have been reported as important factors contributing to PRMDs. AIMS: To evaluate feasibility and effectiveness of a specific exercise programme delivered via a digital video disc (DVD) targeting PRMDs and associated risk factors. METHODS: Volunteers from eight Australian symphony orchestras undertook two or more sessions per week over 12 weeks. Questionnaires were administered pre- and post-intervention with items including the frequency and severity of PRMDs, perceived exertion during different playing situations, per formance effects of the DVD and satisfaction rates. Musicians who had also participated in an equivalent face-to-face programme prior to this DVD trial compared the two interventions. RESULTS: One hundred and forty-four out of 576 musicians volunteered (25% uptake), and 50 participants completed a mean 2.1 (SD 0.42) sessions over the 12 week period (41% compliance). PRMD frequency and severity were significantly reduced post-intervention (P < 0.01). Participants reported benefits of the DVD on strengthening muscles, increasing ease of movement and improving flexibility related to playing. Despite this, perceived exertion levels during private practice, rehearsal and performance remained the same (not significant). Seventy-eight per cent of participants scored their overall experience of the use of the DVD as good or excellent. Owing to its convenience and detailed exercise demonstrations, the DVD was rated as better or much better overall than the face-to-face classes by 55% of participants who had experienced both. CONCLUSIONS: An exercise DVD was well received and appeared to be effective, convenient and safe in managing occupational-specific musculoskeletal disorders in musicians.

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000-2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0-15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11-2.33; P=0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; P<0.001). Most relatives who undergo testing are tested immediately after the baby's diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.

[Early manifestation and dynamics of the development of vertebrobasilar circulation disorder associated with cervicovertebral dysfunction, directions of the prophylaxis and treatment]. / Ranni proiavy i dynamika rozvytku vertebral'no-bazyliarnoï dystsyrkuliatsiï, pov'iazanoï z tservikovertebrohennoiu dysfunktsiieiu, ta napriamy ïï profilaktyky i likuvannia.

206 children and young patients have been observed to diagnose the origin and dynamics of the development of vertebrobasilar circulation disturbances. The great importance was given to detail data collection by questionnairing and studying outpatient medical records of the patients since early childhood. The obtained data were compared with those of healthy people of similar age. Risk factors and the development of symptoms of the disease with age were analyzed in the article. Genetical and constitutional factors are of great importance in the development of vascular and musculoskeletal systems pathologies. The intensity of the pathologic process and dynamics of its development connected directly with the number and pathologic factors duration. Early manifestation of vertebrobasilar disturbances is considered in practice as vegetovascular dystonia. Taking into account a reflex factor in the development of the pathology, reflex therapeutic methods will be pathogenetically justified.

Prevention of musicians' hand problems.

A significant proportion of musicians suffer musculoskeletal problems as a result of playing their instruments. The author describes the British Performing Arts Medicine Trust founded by Dr. Ian James 12 years ago to address these problems in Great Britain. The author, a rheumatologist consultant since its inception, reviews over a thousand cases seen at these clinics. Almost half of these patients had no obvious structural abnormality sustaining symptoms through poor posture, bad practice techniques, unfitness and overuse. Lack of full rehabilitation after injury was the most common cause of structural disorders. The responsibilities for prevention of injuries is described for the three components of the profession: musicians, teachers, and administrators.