BACKGROUND: The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and transmits as autosomal dominant trait. It usually begins as limb-onset dystonia in childhood and tends to spread to other sites and has been reported as the most common cause of early onset PTD in Ashkenazi Jews. However, the frequency of DYT1 mutation in Korean patients with sporadic PTD has not been reported. METHODS: We examined dystonia patients who visited the Neurologic Clinic of Asan Medical Center between Jan 2001 and March 2002. The sporadic PTD patients of them were screened by genotyping with their peripheral blood samples. RESULTS: The 66 patients with sporadic PTD were recruited and two of them showed DYT1 mutation on Chromosome 9. One patient had segmental dystonia with cervical onset; the other had generalized dystonia with left leg onset. None of the patients with focal dystonia showed a DYT1 mutation. CONCLUSIONS: The DYT1 dystonia comprise a small portion of PTD without familial history in Korea. The DYT1 gene test should be considered in the early-onset or spreading type dystonia despite the absence of familial background in primary dystonia patient.
Chromosomes, Human, Pair 9 ; Chungcheongnam-do ; Dystonia ; Dystonia Musculorum Deformans* ; Dystonic Disorders ; Humans ; Jews ; Korea ; Leg

Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Island in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the preva-lence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men. An updated XDP Philippine registry (as of January 2010) has identified 505 cases, with 500 males and 5 females. While some report that females may carry a milder form of the disorder, in our experience, both sexes generally follow a similar progressive clinical course.

Human ; Male ; Female ; Aged ; Adult ; Dystonia ; Dystonia Musculorum Deformans ; Dystonic Disorders ; Genetic Diseases, X-linked ; Islands ; Parkinsonian Disorders ; Penetrance

Targeted for relief of spasms, posturing, pain, impaired function and disfigurement, botulinum toxin type-A (BoNT-A) was injected in dystonias of X-linked dystonia-parkinsonism (XDP). From 1992-2012, focal/ multifocal dystonia combinations were injected in XDP at the following regions: Peri-ocular (21 cases), oromandibular (50 cases), ligual (35 cases), laryngeal (5 cases), cervical (56 cases), truncalaxil (24 cases) upper limbs (13 cases) and lower limbs (18 cases). Pain was frequently reported in 40/50 cases with oromandibular dystonia, 28/56 cases with cervical dystonia, 18/24 cases with truncal-axil dystonia and 16/31 cases with limb dystonia. Outcomes were assessment through the global dystonia rating scale (DRS) at week 4, VAS pain reduction at week 4, duration of BoNT-A effects and safety. Cranial, laryngeal and cervical dystonia showed substantial improvement (DRS median score of 3-4), whereas truncal-axil and limb dystonias showed moderate improvement (DRS median score of 2), following BoNT-A. Pain reduction ranged from 30-100% (VAS), for those dystonias that reported co-morbid pain. BoNT-A effects had a duration ranging from 8-20 weeks. Procedures were generally well tolerated, and the adverse events were most significant in laryngeal injections (voice breathiness, but was eventually followed by a strong voice). The other events were mouth dryness, dysphagia and weekness in oromandibular, cervical and limb dystonias, respectively. Therefore, BoNT-A is a safe and valuable therapeutic option for the dystonias of XDP, especially the disabling and painful dystonias. BoNT-A injection working protocols could be adopted in dystonia that adheres to cost minimization (e.g. lower dose end per selected muscles), yet achieving a substantial benefit, and a reduced adverse event profile. Futhermore, this present study allowed us to recommend a "high potency, low dillution" of BoNT-A in oromandibular, linual, laryngeal, cervical and distal limb dystonias. In dystonias of the abdominal, paraspinal and proximal limb muscles, the "low potency, high dilution" BoNT-A injection protocol could be adopted.

Human ; Botulinum Toxins, Type A ; Deglutition Disorders ; Dystonic Disorders ; Genetic Diseases, X-linked ; Lower Extremity ; Pain ; Spasm ; Torticollis ; Xerostomia

Abnormal posture of the head and neck can happen to anybody from neonates to adults, which requires appropriate interventions according to etiologies. Congenital muscular torticollis is the most common cause of abnormal posture of the head and neck in infancy, where early intervention as soon as possible is critical for better therapeutic outcome. Childhood laterocollis is heterogeneous condition, which needs etiological diagnosis for the proper management. Cervical dystonia is the most common form of focal dystonia and an overview on clinical presentations and therapeutic options including chemodenervation with botulinum toxin injection was provided. Abnormal posture of the head and neck of acute onset could be a sign of serious conditions and needs differential diagnosis.
Adult ; Botulinum Toxins ; Diagnosis, Differential ; Dystonic Disorders ; Early Intervention (Education) ; Head ; Humans ; Infant, Newborn ; Neck ; Nerve Block ; Posture ; Torticollis

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

Botulinum toxin, a neurotoxin, is known to be an inhibitor of cholinergic neuromuscular transmission. Recently, it was reported that the administration of botulinum toxin is effective for the treatment of focal neurological motor disorders such as cervical dystonia, blepharospasm, hemifacial spasm, spasmodic dysphonia, and writer's cramp. Several case studies reported that the botulinum toxin was administered for the treatment of motor tic or vocal tic. It was found that this toxin reduces the frequency and severity of the tic as well as the premonitory urge and symptoms. In our case study, a noticeable decrease of motor tic symptom was observed after an intramuscular injection of 300mg of botulinum toxin in an 18-year-old patient with Tourette's disorder who showed only a little improvement of motor tic and vocal tic symptoms after treatment with antipsychotic drugs for several years. This case is reported in our study and literature survey was undertaken for reviewing similar cases. In our study, an 18-year-old boy diagnosed with Tourette's disorder based on Diagnostic and Statistical Manual of Mental Disorders, fourth edition presented with the following scores : the Clinical Global Impression scale, Yale Global Tic Severity Scale (motor/vocal/severity), Premonitory Urge Score, Korean Attention-Deficit Hyperactivity Disorder Rating scale, and Kovac Depression scale which were performed prior to the treatment were 5, 21/5/50, 100, 17, and 18 points, respectively. Two weeks after the injection of botulinum toxin, the scores were 4, 17/5/40, 50, 16, and 19 points, respectively. Eight weeks after the injection of botulinum toxin, they had become 3, 15/5/30, 25, 16, and 20 points, respectively, which clearly indicates a noticeable decrease of motor tic symptom.
Antipsychotic Agents ; Blepharospasm ; Botulinum Toxins ; Depression ; Diagnostic and Statistical Manual of Mental Disorders ; Dysphonia ; Dystonic Disorders ; Hemifacial Spasm ; Humans ; Injections, Intramuscular ; Tics ; Torticollis ; Tourette Syndrome

Spasmodic torticollis (ST) is a focal dystonia caused by a tonic or intermittent spasms of the neck muscles. Botulinum toxin type A has been known to be one of the effective treatments for the cervical dystonia. We report the result of low dose botulinum toxin type A injection in 26 patients with spasmodic torticollis. In addition to the careful neurological examination, a needle polymyographic analysis was used to identify muscles responsible for ST. The most common combination of the involved muscles was splenius capitus and sternocleidomastoid muscle. The mean dose of botulinum toxin used in the patient was 100 units (range ; 80-140 units). Mean dose of 25 units (range ; 20-30 units) for levator scapula, 30 units (range ; 20-40 units) for semispinalis, 37 units (range ; 25-50 units) for sternocleidomastoid, 40 units for trapezius and 58 units (range ; 40-100 units) for splenius capitus muscle were injected. Using Tsui score (for objective response rating scale) and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS ; for objective and subjective response rating scale), we assessed the patient before and 2, 6 and 10 weeks after the botulinum toxin injection. Seventeen of the 26 (65%) showed improvement on TWSTRS objective response rating scale, and 18 (69%) on Tsui scale. Comparing to the baseline score measured by Tsui scale, the amount of improvement was 37.1% (range 20-88%). Twenty one of the 26 (80.7%) reported improvement on subjective rating scale (TWSTRS). Twenty of the 21 responder on the subjective rating scale felt improvement within a week after the botulinum toxin injection. The beneficial effect lasted for 0.5 to longer than 9 months (mean ; 3.5months). We compared the result with that of the other studies in which larger doses of botulinum toxin were injected into the neck muscles selected on clinical ground. There was no significant difference of response rate and duration of beneficial effects. In our study, only two patients developed transient complications ; one
Botulinum Toxins* ; Botulinum Toxins, Type A ; Dystonic Disorders ; Humans ; Muscles ; Neck Muscles ; Needles ; Neurologic Examination ; Paraspinal Muscles ; Scapula ; Spasm ; Superficial Back Muscles ; Torticollis*

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

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