Musician's dystonia in pianists: long-term evaluation of retraining and other therapies.

OBJECTIVE: Musician's dystonia is characterized by loss of voluntary motor control in extensively trained movements on an instrument. The condition is difficult to treat. This retrospective study reports on the interventions received by a homogeneous cohort of pianists with musician's dystonia and the subjective and objective changes reported in task performance. METHODS: This is a retrospective descriptive study. Fifty four pianists with musician's dystonia who had received care in a Movement Disorders Clinic completed a self report questionnaire regarding type and effectiveness of treatment received over the last 4 years. Pianists' fine motor control was assessed objectively by measuring the temporal regularity of their scale playing. RESULTS: Nearly all patients (98.0%) reported deficits in motor tasks other than musical playing. Half of the patients were taking medications (Botulinum toxin (53%), Trihexyphenidyl (51%)). Subjects reported participating in multiple therapies: retraining (87%), hand therapy (42%), relaxation techniques (38%), physiotherapy (30%), psychotherapy (23%), acupuncture (21%) and body techniques (21%). Self-reported improvements in motor performance were reported by 81.5% of the subjects with 5.6% reporting a complete recovery. Objective gains in task-specific motor performance were documented in 42.9% of the subjects (with deterioration in 4.8%). Retraining therapy, relaxation techniques and change in teacher explained 52% of the variance in subjective outcomes. CONCLUSIONS: Musician's dystonia not only interferes with musical performance but other fine motor tasks. Objectively, approximately 50% of patients improved task performance following participation in a variety of intervention strategies, but subjectively, 80% of subjects reported improvement.

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

BACKGROUND: Musician's dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately, 1% of all professional musicians are affected. The pathophysiology of the disorder is still unclear. Findings include: (i) reduced inhibition in different levels of the central nervous system, (ii) maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia and (iii) alterations in sensorimotor processing. METHODS: Review of the literature. RESULTS: Epidemiological data demonstrated 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 had more perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioural factors may be involved in the etiology of musician's dystonia. Hereditary factors may play a greater role than previously assumed. CONCLUSIONS: We propose a heuristic model that may explain the relatively high incidence of focal dystonia in musicians. This model assumes the coactions between a predominantly genetically determined predisposition and intrinsic and extrinsic triggering factors.

Etiology of musician's dystonia: familial or environmental?

OBJECTIVE: To test the hypothesis that there is familial aggregation of dystonia and other movement disorders in relatives of patients with musician's dystonia (MD) and to identify possible environmental triggers. METHODS: The families of 28 index patients with MD (14 with a reported positive family history of focal task-specific dystonia [FTSD] and 14 with no known family history [FH-]) underwent a standardized telephone screening interview using a modified version of the Beth Israel Dystonia Screen. Videotaped neurologic examinations were performed on all participants who screened positive and consensus diagnoses established. All patients were investigated for DYT1 dystonia and suitable families were tested for linkage to DYT7. All family members were administered questionnaires covering potential triggers of FTSD. RESULTS: A diagnosis of dystonia was established in all 28 index patients and in 19/97 examined relatives (MD: n = 8, other FTSD: n = 9, other dystonias: n = 2), 5 of whom were members of FH- families. In 27 of the 47 affected individuals, additional forms of dystonia were seen; other movement disorders were observed in 23 patients. In total, 18 families were multiplex families with two to four affected members. Autosomal dominant inheritance was compatible in at least 12 families. The GAG deletion in DYT1 was absent in all patients. Linkage to DYT7 could be excluded in 1 of the 11 informative families. With respect to potential environmental triggers, there was no significant difference between patients with MD/FTSD compared to unaffected family members. CONCLUSION: Our results suggest a genetic contribution to musician's dystonia with phenotypic variability including focal task-specific dystonia.

Dominantly transmitted focal dystonia in families of patients with musician's cramp.

Musician's dystonia is generally considered a sporadic disorder. We present three families with the index patient affected by musician's dystonia, but other forms of upper limb focal task-specific dystonia (FTSD), mainly writer's cramp, in seven relatives. Our results suggest a genetic contribution to FTSD with phenotypic variability, including musician's dystonia.

Extracellular matrix proteins in cardiac fibroblasts derived from rat hearts with chronic pressure overload: effects of beta-receptor blockade.

Left ventricular hypertrophy (LVH) is accompanied by progressive accumulations of extracellular matrix proteins. They are produced predominantly by cardiac fibroblasts that surround the cardiac myocytes. The aim of this study was to emphasize the role of a combined approach using both in vivo and in vitro studies to elucidate the effects of carvedilol on cardiac remodeling. We therefore used an established model of supravalvular aortic banding and cardiac fibroblasts. LVH was induced by banding of the ascending aorta. Male Wistar rats were allocated to four groups: sham-operated, sham+carvedilol, aortic stenosis (AS), and AS+carvedilol. Treatment time was four weeks. Fibroblasts were isolated from the entire left ventricle of sham and AS rats. Carvedilol/metoprolol/prazosin were added (0.1, 1.0 and 10 microM; 24 h). In addition, interferon- gamma was applied for 24 h (10, 100 and 1000 IU). AS rats revealed increased LV weights (+27%) and cardiomyocyte widths as compared to sham-operated rats (1.6-fold, P<0.01). Carvedilol reduced LVH by 20%. This finding was accompanied by a decrease of laminin, fibronectin, collagen I and III in vivo. Collagen I/III and fibronectin were increased in fibroblasts of AS v sham rats (P<0.0001, each). Carvedilol reduced collagen I, III and fibronectin by 40/60/35% (0.1 microM; P<0.001) irrespective of LVH. Carvedilol had no effects on collagen IV and laminin. Carvedilol dose-dependently reduced the proliferation rate by 20% at 0.1 microM(P<0.0001). Metoprolol and prazosin had no effect on the expression of extracellular matrix proteins and on the proliferation of the cells of either origin. Interferon- gamma blunted the proliferation rate of cultured fibroblasts and lead to a significant decrease in extracellular matrix deposits. These results indicate that the effects of carvedilol may be due to the antiproliferative or antioxidative properties of this unselective beta-adrenergic receptor antagonist. These changes of the extracellular matrix represent a new mechanism of carvedilol that may contribute to the observed beneficial effects in congestive heart failure.

Endoscopic ultrasound-guided, 18-gauge, fine needle aspiration biopsy of the pancreas using a 2.8 mm channel convex array echoendoscope.

BACKGROUND: Previous studies have reported on endoscopic ultrasound-guided, fine needle aspiration biopsy using 22- to 25-gauge needles. We evaluated the histologic and cytologic yield of endoscopic ultrasound-guided, fine needle aspiration biopsy of the pancreas using an 18-gauge, Menghini-type core needle. METHODS: Fine needle aspiration biopsy was performed in conjunction with a prototype 2.8 mm channel convex array echoendoscope. The core specimen was placed in formalin for cell block, and residual material was expelled on slides for cytology. Definitive diagnosis was established by surgery or clinical follow-up. RESULTS: Of 45 patients who underwent fine needle aspiration biopsy, the needle failed to penetrate indurated pancreatic lesions in five. An average of 2.6 passes were performed in the remaining patients. Sufficient material for a histologic and/or cytologic diagnosis was obtained in 40 patients (histologic and cytologic yield of 68% and 75%, respectively). Combining the results of histology and cytology, the sensitivity and specificity for detection of malignancy was 76% and 100%, respectively. Histology confirmed the cytologic findings in 35 patients, providing additional tissue specific information. In three cases histology established a diagnosis of malignancy where cytology was not conclusively malignant. However, in three cases of surgically confirmed malignancy histology failed to detect malignancy, whereas cytology showed suspicious or malignant cells. The sensitivity of histology and cytology alone in detecting malignancy was 53% and 70%, respectively. Mild pancreatitis occurred after pancreatic fine needle aspiration biopsy in one patient. CONCLUSION: Core specimens for histology can be safely obtained using an 18-gauge needle. Histology provides tissue-specific information that complements cytology, but histology is less sensitive than cytology in detecting malignancy.

Endosonography-guided fine-needle biopsy of indurated pancreatic lesions using an automated biopsy device.

BACKGROUND AND STUDY AIMS: We have designed and evaluated a prototype automated spring-loaded biopsy needle for endoscopic ultrasonography (EUS)-guided tissue sampling of indurated lesions in which sampling using conventional aspiration needles has failed. PATIENTS AND METHODS: EUS-guided fine-needle biopsy using the new device was performed in four patients (two men, two women, mean age 65 years) with indurated pancreatic lesions that could not be penetrated with a conventional manually operated aspiration needle. The lesions were located in the head of the pancreas in two patients, in the genu in one, and in the body in one. RESULTS: The automatic biopsy needle allowed penetration of the pancreatic lesions in all cases. The biopsy route was transduodenal in two patients, and transgastric in the other two. The biopsies provided a core specimen for histological and cytological diagnosis in all cases. No complications occurred. CONCLUSION: The spring-loaded biopsy needle allows tissue sampling of indurated pancreatic lesions that cannot be penetrated with conventional aspiration needles. Further studies are warranted to determine whether this device can improve the results of EUS-guided fine-needle aspiration biopsy.