No abstract available.
Botulinum Toxins* ; Dystonia ; Dystonic Disorders* ; Fingers* ; Humans

18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.
Chromosome 18p deletion syndrome ; Dystonic Disorders

Blepharospasm is a focal dystonia that consists of repetitive involuntary spasmodic contractions of the orbicularis oculi muscle. A 27-year-old man was admitted with ptosis and involuntary blinking in both eyes. He was diagnosed as having schizophrenia when he was 15 years old and medicated with chlorpromazine for 12 years. After excluding all the possible etiopathological causes of the blepharospam, the offending drug was discontinued and changed to an atypical antipsychotic, clozapine. Clozapine was increased up to 75 mg in the 7th day of admission, and the symptoms were slowly ameliorated.
Adolescent ; Adult ; Blepharospasm* ; Blinking ; Chlorpromazine ; Clozapine ; Dystonic Disorders ; Humans ; Schizophrenia

Focal dystonia of musicians is one of the most disabling problems for professional musicians. It has focal task-specificity, presenting with involuntary flexion or extension of individual fingers when musicians play their instruments. It occurs mostly in pianists, and controversies still exist about the pathophysiology, whether it is caused by motor function disability or by a psychological condition. Although sensorimotor rehabilitation, change in instrument, skill or teacher, and immobilization with brace have been tried as treatment, there is still no definitive treatment. Because botox therapy has been effective in certain cases without irreversible side effects, this could be applied even in professional players. We report a case of focal dystonia of the hand in a professional pianist treated using electromyogram-guided botox injection and a review of the relevant medical literature.
Botulinum Toxins, Type A ; Braces ; Dystonic Disorders ; Fingers ; Hand ; Immobilization

Dystonic Disorders ; surgery ; Epilepsy ; surgery ; Humans ; Neurosurgery ; classification ; methods ; trends

Acupuncture Therapy ; Dystonic Disorders ; therapy ; Humans ; Male ; Middle Aged

Writer's cramp is a type of idiopathic focal hand dystonia characterized by muscle cramps that accompany execution of the writing task specifically. There has been renewed interest in neurosurgical procedures for the treatment of dystonia over the past several years. In particular, deep brain stimulation (DBS) has received increasing attention as a therapeutic option for patients with dystonia. However, to date, limited reporters made investigations into DBS in relation to the Writer's cramp. In this case, unilateral Ventro-oralis complex (Vo) DBS resulted in a major improvement in patient's focal dystonic movement disorders. Her post-operative Burke-Fahn-Marsden Dystonia Rating (BFMDR) scale demonstrated 1 compared with pre-operative BFMDR scale 4. We conclude that thalamic Vo complex DBS may be an important neurosurgical therapeutic option for Writer's cramp.
Deep Brain Stimulation ; Dystonia ; Dystonic Disorders ; Hand ; Humans ; Movement Disorders ; Muscle Cramp ; Neurosurgical Procedures ; Writing

BACKGROUND: Focal or segmental dystonic syndromes affecting cranial or upper limb muscles are well recognized. Restricted dystonic movements affecting axial muscle group are less common. Restricted involuntary movements of body parts such as ear and trunk which are not normally affected in isolation by movement disorders have been reported. Despite their unusual locations, the clinical and neurophysiologic characteristics of the movements were similar to dystonia and they were classified as focal dystonia. CASE: We report four patients who have focal dyskinesia affecting ear and abdomen. In two patients, dyskinesia affecting the ear developed after head or facial trauma and in the other two cases, dyskinesia affecting the abdomen occurred after surgical operation. The unusual locations and appearance distinguish these dyskinesias from recognized movement disorder syndromes. CONCLUSION: The characteristic features of these dyskinesia led us to classify it as dystonia. We'd like to underline that dystonia can affect any part of the body and peripheral factors may play a role in pathogenesis of the dystonia.
Abdomen* ; Dyskinesias* ; Dystonia ; Dystonic Disorders ; Ear* ; Head ; Human Body ; Humans ; Movement Disorders ; Muscles ; Upper Extremity

BACKGROUND: XDP is an X-linked recessive disorder characterized by parkinsonism and dystonia described among Filipinos. Oral medications are frequently ineffective. Lately, DBS have been promising. However these are not generally available or affordable for the vast majority of patients. We then decided to evaluate the effectiveness of levodopa-carbidopa for XDP.
OBJECTIVE: To compare the efficacy, safety and tolerability of levodopa-carbidopa vs. placebo in XDP patients.
METHODS: After informed consent and randomization, the BFM and the UPDRS parts III and IV were performed at baseline and monthly up to 6 months. Patients were randomized to receive either levodopa-carbidopa at a starting dose of 125 mg levodopa/ day in 2 divided doses or corresponding placebo. Gradual uptitration was done to a maximum of 1000 mg levodopa/ day or until side effects appeared.
Homogeneity of the characteristics of patients in the 2 groups was determined using Independent t-test and Chi-square test. To determine the significance of changes in the efficacy parameters within each group, Wilcoxon Matched Pairs Signed Ranks Test was used. To compare the scores of the different efficacy parameters of the 2 groups, Mann Whitney U Test was applied to the data. A p?0.050 was considered significant.
RESULTS: A total of 107 patients were recruited. There were 13 screen failures, and 94 were subsequently enrolled. The baseline characteristics (age, duration of illness, baseline BFM and UPDRS (motor) scores were not significant between levodopa and placebo (age in years: 47 + 9.35 vs. 50 + 9.51; duration of illness in years 6.3 + 7 vs. 6.2 + 5.2; BFM score: 32.8 + 24.5 vs. 28.4 + 26.5; UPDRS score 29.9 + 20.7 vs. 34.8 + 26.8).
There was a decrease in BFM scores from baseline to all follow-up periods in patients given levodopa but were statistically significant only on visit 2 and visit 9. In the placebo group, decrease in scores was also observed in some observation periods but no statistical significance was shown. A comparison of the 2 groups showed that the magnitude of decrease in the levodopa group was statistically greater than the placebo group on the second visit. There were no significant differences observed in all other follow-up periods. Both groups showed a decrease in UPDRS scores but significant decrease was observed in visits 2, 5, 6, 7, 9 of the levodopa group. While in the placebo group, a significant decrease was observed only on visit 2. Comparison of the 2 groups did not show any significant differences.
There were 17 patients from the levodopa group who reported adverse events (most common: increased involuntary movements, nausea/ vomiting/ dizziness, headache, and generalized weakness. In the placebo group, there were 11 patients (most common: increased involuntary movements, abdominal pain). There were 9 patients who dropped out (levodopa: 4, placebo: 5).
CONCLUSION: There was a significant decrease in the BFM and UPDRS scores in XDP patients given levodopa compared to placebo. Levodopa is a safe and effective drug that may be considered in patients with XDP.
NOTE: This study was supported by an unrestricted grant by Torrent Pharma Philippines, Inc.

Human ; Abdominal Pain ; Carbidopa ; Dyskinesias ; Dystonia ; Dystonic Disorders ; Headache ; Levodopa ; Nausea ; Parkinsonian Disorders ; Statistics, Nonparametric ; Vomiting

OBJECTIVE: The inability to propel a bolus of food successfully from the posterior part of the oral cavity to the oropharynx is defined as transfer dysphagia. The present case series describes the varied presentation of transfer dysphagia due to focal dystonia and highlights the importance of early detection by following up on strong suspicions. METHODS: We describe seven cases of transfer dysphagia due to focal dystonia. Transfer dysphagia as a form of focal dystonia may appear as the sole presenting complaint or may present with other forms of focal dystonia. RESULTS: Four out of seven patients had pure transfer dysphagia and had previously been treated for functional dysphagia. A high index of suspicion, barium swallow including videofluoroscopy, associated dystonia in other parts of the body and response to drug therapy with trihexyphenidyl/tetrabenazine helped to confirm the diagnosis. CONCLUSION: Awareness of these clinical presentations among neurologists and non-neurologists can facilitate an early diagnosis and prevent unnecessary investigations.
Barium ; Deglutition Disorders ; Diagnosis ; Drug Therapy ; Dystonia ; Dystonic Disorders ; Early Diagnosis ; Humans ; Mouth ; Oropharynx