The clinical characters, diagnosis and differential diagnosis of paroxysmal kinesigenic choreoathetosis (PKC), and efficacy of the anti-epileptic drugs (AEDs) were investigated. Thirty-one patients with PKC were collected, and the clinical characters and change of EEG were analyzed. The average age of the first attack was 16.8 years old and the pinnacle was 10 to 20 years old. There were definite causes for every attack and the sudden movement was the most common one (92%). Time for the whole attack was always less than 1 min. The attack presented with muscle tension disturbance (83.9%), movement like dancing (16.1%), abnormal movement of mouth and face and other symptoms (16.2%). The attack tended to be very frequent and 71% patients were beyond once per day. The EEG examination and image scan of primary PKC were normal in most patients. Low dosage of AEDs could control the attack of 50%-77.3% patients. It was concluded that PKC was a common disease of movement disorder. The therapy by AEDs was very effective. PKC should be differentiated from epilepsy and the relationship between PKC and epilepsy needs further research.
Anticonvulsants/*therapeutic use ; Diagnosis, Differential ; Dystonia/diagnosis ; Dystonia/drug therapy ; Electroencephalography ; Epilepsy/diagnosis ; Young Adult

PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by recurrent and brief dyskinesia attacks triggered by sudden voluntary movement. The diagnosis of PKD is based on clinical findings, and mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified as the cause of PKD. Two Korean cohorts have been reported on PRRT2 mutation analysis in PKD patients. The purpose of this study was to determine the mutation spectrum of the PRRT2 gene and to examine the clinical characteristics associated with PRRT2 mutations. METHODS: We studied 23 members of four families with familial PKD and two families with sporadic PKD which included 9 patients and 2 patients, respectively. Mutation analysis of the PRRT2 gene was performed using Sanger sequencing. Clinical features of PKD were compared between patients with a PRRT2 mutation and those with no detectable PRRT2 mutation. RESULTS: PRRT2 mutations were detected in three of four PKD families (75%), and in none of the two sporadic cases (0%). All detected PRRT2 mutations were c.649dupC (p.Arg217Profs*8). Subjects with detected PRRT2 mutations had earlier age at onset and longer duration of attacks. CONCLUSION: As previously reported in Korean PKD patients, our results confirmed that PRRT2 is a major causative gene for familial PKD, and the c.649dupC is the most frequent mutation. PRRT2 mutation analysis is required for the molecular diagnosis of familial PKD and for evaluating the clinical manifestations of PKD.
Age of Onset ; Cohort Studies ; Diagnosis ; Dyskinesias* ; Dystonia ; Humans ; Movement Disorders

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

A Meige's syndrome is a rare neurological syndrome characterized by blepharospam and oromandibular dystonia. Its pathophysiology is not clearly determined yet, but the hypothesis of dopaminergic and cholinergic hyperactivity is most widely accepted. Anticholinergic drugs, antidopaminergic drugs and botulism toxin injection are currently used for the treatment of Meige's syndrome. The Meige's syndrome could be misdiagnosed as a psychaitric disorder such as conversion disorder or anxiety disorder, because clinical features of the Meige's syndrome are very variable and affected by psychological factors. The authors experienced one case of a 49-year-old female patient who was initally misdiagnosed as conversion disorder but confirmed later as Meige's syndrome, and then successfully treated.
Anxiety Disorders ; Botulism ; Conversion Disorder* ; Diagnosis, Differential* ; Dystonia ; Female ; Humans ; Middle Aged ; Psychology

Dystonia is a disorder of movement caused by involuntary, sustained muscle contractions affecting one or more sites of body, frequently causing twisting and repetitive movements, or postures. Dystonic movements and postures can produce a wide range of clinical presentations. Some distinguishing clinical features of dystonia can help the appropriate diagnosis of primary dystonia. The direction of contraction is almost consistent. Action dystonia and occupational dystonia are related to a movement or task-specific movement, respectively. Sensory tricks or gestes antagonistes are usually seen in patients with dystonia. Two types of tremors can be seen in patients with dystonia: a postural and/or action tremor that resembles essential tremor and a rhythmic expression of dystonic tremor. Sometimes dystonic tremor appears to be less regular and can be associated with myoclonus. Onset age of dystonia, body distribution and etiologies are important to correct diagnosis of primary dystonia. It is well known that the age of onset has important prognostic implications. This article highlights general concepts of phenomenology, classification that are relevant for the purpose a clinical diagnosis.
Age of Onset ; Classification ; Diagnosis ; Dystonia ; Dystonic Disorders* ; Essential Tremor ; Humans ; Muscle Contraction ; Myoclonus ; Posture ; Tremor

Child ; Dystonia Musculorum Deformans ; diagnosis ; etiology ; genetics ; Humans ; Magnetic Resonance Imaging ; Male

Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same etiologic background with DRD, but DRD-plus patients have more severe features that are not seen in DRD because of the severity of the genetic defect. However, there have been many reports of dystonia responsive to dopaminergic drugs that do not fit into DRD or DRD-plus (genetic defects in the dopamine synthetic pathway without nigral cell loss). We reframed the concept of DRD/DRD-plus and proposed the concept of DRD look-alike to include the additional cases described above. Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); SOX6 mutation resulting in a developmentally decreased number of nigral cells; degenerative disorders with progressive loss of nigral cells (juvenile Parkinson's disease; pallidopyramidal syndrome; spinocerebellar ataxia type 3), and disorders that are not known to affect the nigrostriatal dopaminergic system (DYT1; GLUT1 deficiency; myoclonus-dystonia; ataxia telangiectasia). This classification will help with an etiologic diagnosis as well as planning the work up and guiding the therapy.
Ataxia ; Classification ; Diagnosis ; Dopamine ; Dopamine Agents ; Dystonia* ; Humans ; Parkinson Disease ; Spinocerebellar Ataxias ; Vesicular Monoamine Transport Proteins

A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR. The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.
Basal Ganglia/pathology ; Case Report ; Dystonia/diagnosis/*etiology ; Energy Metabolism ; Human ; Infant ; Leigh Disease/*diagnosis/metabolism/pathology ; Male ; Muscles/pathology

OBJECTIVETo explore the feasibility of using PCR-based capillary electrophoresis method to analysis mutation of the TOR1A gene in a family affected with primary torsion dystonia (PTD).

METHODSPeripheral blood sample was collected from proband and amnionic fluid from her fetus for the extraction of DNA. The 5th exon of the TOR1A gene and its flanking sequences were amplified with PCR and analyzed with agarose electrophoresis, fluorescence labeled fragment analysis and Sanger sequencing.

RESULTSFluorescence labeled fragment analysis was performed through capillary electrophoresis, which showed that the proband carried a c.907_909delGAG (p.Glu303del) deletional mutation of the TOR1A gene. The result was verified by Sanger sequencing. The fetus DNA was also found with the same mutation by capillary electrophoresis, inferring that the fetus was probably affected with the disease.

CONCLUSIONThe mutation of c.907_909delGAG of the TOR1A gene was speculated as pathologic cause of proband in this family. Fragment analysis by capillary electrophoresis combined with DNA sequencing is an efficient test for small deletional mutations and feasible for its prenatal diagnosis.

Adult ; Dystonia ; diagnosis ; genetics ; Electrophoresis, Capillary ; Female ; Humans ; Molecular Chaperones ; genetics ; Mutation ; Prenatal Diagnosis ; Sequence Analysis, DNA

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.
Alopecia ; Brain ; Consanguinity ; Diabetes Mellitus ; Diagnosis ; Dystonia ; Humans ; Hypogonadism ; Intellectual Disability ; Iron ; Movement Disorders ; Neurodegenerative Diseases ; Phenotype ; Siblings