Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Cerebellar ataxia is a hallmark of coenzyme Q10 (CoQ10) deficiency associated with COQ8A mutations. We present four patients, one with novel COQ8A pathogenic variants all with early, prominent handwriting impairment, dystonia and only mild ataxia. To better define the phenotypic spectrum and course of COQ8A disease, we review the clinical presentation and evolution in 47 reported cases. Individuals with COQ8A mutation display great clinical variability and unpredictable responses to CoQ10 supplementation. Onset is typically during infancy or childhood with ataxic features associated with developmental delay or regression. When disease onset is later in life, first symptoms can include: incoordination, epilepsy, tremor, and deterioration of writing. The natural history is characterized by a progression to a multisystem brain disease dominated by ataxia, with disease severity inversely correlated with age at onset. Six previously reported cases share with ours, a clinical phenotype characterized by slowly progressive or static writing difficulties, focal dystonia, and speech disorder, with only minimal ataxia. The combination of writing difficulty, dystonia and ataxia is a distinctive constellation that is reminiscent of a previously described clinical entity called Dystonia Ataxia Syndrome (DYTCA) and is an important clinical indicator of COQ8A mutations, even when ataxia is mild or absent.

The usefulness of on-site physical therapy-led triage services for professional orchestral musicians -- a national cohort study.

BACKGROUND: Australian professional orchestral musicians reported a lifetime prevalence of musculoskeletal injuries that had interfered with playing at 84%. Physical therapy-led triage clinics may be a practical method to manage the impact of high performance-related musculoskeletal disorders (PRMDs) in professional orchestral musicians. This study aimed to: a) collect information on presenting injuries, b) determine the participant's provisional diagnosis, c) evaluate uptake of an on-site triage service, d) measure participant satisfaction, and e) identify factors influencing attendance. METHODS: Eight triage sessions were run on a fortnightly basis during a designated lunch break between rehearsal calls in seven premier symphony orchestras in Australia; a total population of 483 musicians. The participants received one or a combination of: a) education and advice relating to their provisional diagnosis, b) basic acute management and/or c) a referral to a suitable medical practitioner or allied health professional for further consultation or treatment. A three-month follow-up questionnaire was completed and a qualitative narrative themes-based analysis was undertaken to summarise participant and physical therapist feedback. Uptake, participant satisfaction and factors influencing attendance were measured. RESULTS: 99 initial consultations (83 individuals) were conducted with more females (61%) utilizing the service than males (49%). The most common injury complaints were in the shoulder (22%), neck (18%), upper back (18%), and hand (8%). 66% of these were diagnosed as PRMDs. Of these injuries, 94% were considered preventable, 93% continued to affect playing, 68% were severe requiring a referral for further management, and 46% were recurrent. The advice at the triage service was rated as helpful or very helpful by 79% of the musicians, whilst 68% responded they were likely or very likely to continue to use the service if it was offered in the future. Of the participants that followed through with the referral advice, 67% reported that the referral advice was helpful or very helpful. Musicians' and physical therapists' written feedback indicated their acknowledgement for the need of this service. The main suggestions for improving attendance were increasing the music-specific physical therapy knowledge of therapists and overcoming competing time demands. CONCLUSION: On-site health services for musicians may facilitate better injury management by providing immediate and specific health advice. TRIAL REGISTRATION: ACTRN12612000220864.

Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia.

BACKGROUND: Complementary and Alternative Medicine (CAM) use is on the rise in both the US and Europe, despite questions about its safety and effectiveness, and lack of national standards. We aimed to determine the prevalence and predictors of CAM and integrative medicine use (CAM-I) and perceived effectiveness compared to the standard treatment of botulinum toxin injections in patients with adult-onset primary dystonia. METHODS: This was a retrospective questionnaire study of 389 dystonia patients examining the effects age, gender, education level and number of affected anatomical regions on botulinum toxin and CAM-I use and their perceived effectiveness. RESULTS: 53% (208) of patients reported CAM-I use, while 90% (349) used the standard treatment (botulinum toxin), and 48% used both. Education was the only significant predictor of CAM-I use - individuals with bachelor's degrees were more likely to try CAM-I whereas those with high school diplomas were less likely. The mean effectiveness rate for botulinum toxin injections (59%) significantly exceeded that for CAM-I (28%, p < 0.0001). CONCLUSIONS: Our work highlights the need for scientifically sound studies to determine the safety, effectiveness and expense of CAM-I treatments for dystonia and other neurological disorders given that CAM-I use is steadily increasing, there is great variability in what is classified as CAM-I, and the effectiveness of some modalities may be significantly less than conventional medical treatments.

Focal dystonia in musicians: phenomenology, pathophysiology, triggering factors, and treatment.

Musician's dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1% of all professional musicians develop musician's dystonia, and in many cases, the disorder terminates the careers of affected musicians. The pathophysiology of the disorder is not completely clarified. Findings include 1) reduced inhibition at different levels of the central nervous system, 2) maladaptive plasticity and altered sensory perception, and 3) alterations in sensorimotor integration. Epidemiological data demonstrate a higher risk for those musicians who play instruments requiring maximal fine-motor skills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia have more anxiety and perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Preliminary findings also suggest a genetic contribution to focal task-specific dystonia with phenotypic variations including musician's dystonia. Treatment options include pharmacological interventions, such as trihexyphenidyl or botulinum toxin-A, as well as retraining programs and ergonomic changes in the instrument. Patient-tailored treatment strategies may significantly improve the situation of musicians with focal dystonia. Positive results after retraining and unmonitored technical exercises underline the benefit of an active involvement of patients in the treatment process. Only a minority of musicians, however, return to normal motor control using the currently available therapies.

Obsessive compulsive disorder among idiopathic focal dystonia patients: an epidemiological and family study.

BACKGROUND: A disturbed function of striato-thalamo-cortical circuitry is hypothesized to underlie idiopathic focal dystonia (IFD) and obsessive compulsive disorder (OCD), two severe and disabling neurologic and psychiatric disorders. Previous studies on small samples showed either higher obsessionality scores or higher frequency of OCD in dystonic patients than in normal control subjects. The aim of this study was to evaluate the frequency and familial loading of OCD in a population of patients with IFD. METHODS: We evaluated OCD diagnosis and family history in 76 patients affected by IFD. RESULTS: Of our subjects 19.7% satisfied DSM-IV criteria for OCD diagnosis and had a family morbidity risk for OCD of 13.8%, significantly higher than that found in the general population. CONCLUSIONS: Our results support the hypothesis of a common pathologic background for OCD and IFD, at least in a subgroup of IFD, indicating basal ganglia dysfunction.