BACKGROUND AND PURPOSE: Responses to repetitive nerve stimulation (RNS) in patients with muscle-specific tyrosine kinase (MuSK) antibody (Ab)-positive myasthenia gravis (MG) vary depending on the muscles tested. We analyzed the RNS responses of limb and facial muscles in MuSK-Ab-positive and acetylcholine receptor (AChR)-Ab-negative MG (MuSK MG) and MuSK-Ab-negative and AChR-Ab-negative [double-seronegative (DSN)] MG patients. METHODS: We retrospectively compared RNS responses between 45 MuSK MG and 29 DSN MG. RNS was applied to the abductor digiti minimi, flexor carpi ulnaris, trapezius, orbicularis oculi, and nasalis muscles. RESULTS: Abnormal RNS responses in limb muscles were observed in 22.2 and 58.6% of MuSK MG and DSN MG patients, respectively, with abnormal facial responses observed in 77.8 and 65.5%, and abnormal responses observed in any of the five muscles in 86.7 and 72.4%. Abnormal RNS responses in the abductor digiti minimi or flexor carpi ulnaris were less frequent in MuSK MG (8.9 and 15.6%, respectively) than in DSN MG (37.9 and 55.2%), whereas the findings for other muscles were not significantly different between the groups. Abnormal facial responses but normal limb responses were independently associated with MuSK MG (odds ratio=5.224, 95% confidence interval=1.300–20.990). CONCLUSIONS: Abnormal RNS responses primarily in facial muscles without involvement of limb muscles were more pronounced in MuSK MG than in DSN MG. RNS of both facial and limb muscles in AChR-Ab-negative MG can increase the test sensitivity and aid in early suspicion of MuSK MG.
Acetylcholine ; Extremities ; Facial Muscles ; Humans ; Muscles ; Myasthenia Gravis* ; Protein-Tyrosine Kinases ; Retrospective Studies ; Superficial Back Muscles

No abstract available.
Amnesia, Transient Global* ; Posterior Leukoencephalopathy Syndrome*

Long acting noble antipsychotic, Risperdal Consta, has been reported to be efficacious and well tolerated in treatment of schizophrenia. However there was no report about the safety in using during pregnancy. Here we present the case of female patient with schizophrenia treated with risperdal consta during the entire period of pregnancy and delivered normal child. This case report highlights the benefit/risk of risperdal consta during pregnancy.
Pregnancy ; Child ; Male ; Female ; Humans

OBJECTIVE: To explore whether the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) can be used to screen for dementia or mild cognitive impairment (MCI) in less educated patients with Parkinson's disease (PD). METHODS: We reviewed the medical records of PD patients who had taken the Korean MMSE (K-MMSE), Korean MoCA (K-MoCA), and comprehensive neuropsychological tests. Predictive values of the K-MMSE and K-MoCA for dementia or MCI were analyzed in groups divided by educational level. RESULTS: The discriminative powers of the K-MMSE and K-MoCA were excellent [area under the curve (AUC) 0.86–0.97] for detecting dementia but not for detecting MCI (AUC 0.64–0.85). The optimal screening cutoff values of both tests increased with educational level for dementia (K-MMSE < 15 for illiterate, < 20 for 0.5–3 years of education, < 23 for 4–6 years, < 25 for 7–9 years, and < 26 for 10 years or more; K-MoCA < 7 for illiterate, < 13 for 0.5–3 years, < 16 for 4–6 years, < 19 for 7–9 years, < 20 for 10 years or more) and MCI (K-MMSE < 19 for illiterate, < 26 for 0.5–3 years, < 27 for 4–6 years, < 28 for 7–9 years, and < 29 for 10 years or more; K-MoCA < 13 for illiterate, < 21 for 0.5–3 years, < 23 for 4–6 years, < 25 for 7–9 years, < 26 for 10 years or more). CONCLUSION: Both MMSE and MoCA can be used to screen for dementia in patients with PD, regardless of educational level; however, neither test is sufficient to discriminate MCI from normal cognition without additional information.
Cognition ; Cognition Disorders* ; Dementia ; Education ; Humans ; Mass Screening* ; Medical Records ; Methylenebis(chloroaniline)* ; Mild Cognitive Impairment ; Neuropsychological Tests ; Parkinson Disease*

OBJECTIVE: It is postulated that since aripiprazole is a dopamine partial agonist and serotonin 2A receptor antagonist, aripiprazole may be effective in Tourette syndrome with few of extrapyramidal side effects. This open label study assessed the effectiveness of aripiprazole in children with Tourette syndrome (TS). METHOD: Nineteen children, aged 6 to 13 years, diagnosed with TS were participated in a 8-week open label trial. Efficacy assessments included Korean form of Yale Global Tic Severity Scale (K-YGTSS) and Clinical Global Impression scores. Safety and tolerability evaluations included extrapyramidal symptoms and effects on weight, prolactin, and corrected QT (QTc) interval. RESULTS: A significant decrease in TS symptoms, on all scales measured, appeared in 2 weeks. Adverse effects were mild and not significant. The most frequent side effects were somnolence, light headedness and headache. CONCLUSIONS: The results of current open label trial suggests the effectiveness of aripiprazole and few of side effects in the treatment of children with TS. Double-blind, placebo-, and active comparator-controlled studies are indicated to rigorously test of the efficacy of aripiprazole in TS.
Child* ; Dizziness ; Dopamine ; Headache ; Humans ; Prolactin ; Prospective Studies* ; Receptor, Serotonin, 5-HT2A ; Tics ; Tourette Syndrome* ; Treatment Outcome* ; Weights and Measures ; Aripiprazole

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.
Adolescent ; Anxiety ; Delusions ; Depression ; Dysarthria ; Dystonia ; Gait Disorders, Neurologic ; Hallucinations ; Humans ; Neuroimaging ; Pantothenate Kinase-Associated Neurodegeneration ; Psychotic Disorders ; Rare Diseases ; Siblings ; Substance Withdrawal Syndrome ; Tics

We describe a case report of a young male patient with rhabdomyolysis associated with the use of atypical antipsychotic medication ziprasidone. A 23-year-old male was diagnosed with psychotic disorder not otherwise specified and treated with ziprasidone 120 mg a day. On hospital day 6, the patient developed acute dystonia. On day 8, the serum creatine kinase (CK) level was markedly elevated up to 53,880 IU/L, and a white blood cell (WBC) count was 10,500 cells/microliter. No other diagnostic criteria for neuroleptic malignant syndrome (NMS) were present. On discontinuation of the drug, serum CK concentrations returned to normal within 10 days. Atypical NMS should be considered when patients was treated with novel atypical antipsychotics who develop isolated serum CK elevation.
Antipsychotic Agents ; Creatine Kinase ; Dystonia ; Humans ; Leukocytes ; Male ; Neuroleptic Malignant Syndrome ; Psychotic Disorders ; Rhabdomyolysis* ; Young Adult

Congenital muscle fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type 1 fibers in a muscle biopsy. Clinical manifestations include hypotonia, nonprogressive muscle weakness, joint contractures, and skeletal deformities. However, it has also been noted that the same pathologic alterations appeared in clinically diverse conditions. Recently, we experienced a family, a mother and two children, in which a muscle biopsy showed the mother to have muscle fiber type disproportion. This case was unusual in that there was a significant progression of weakness, an absence of neonatal hypotonia, and other commonly associated musculo-skeletal deformities. In this report, we describe the clinicopathologic features of the family with a brief review about muscle fiber type disproportion.
Adult ; Biopsy ; Child, Preschool ; Female ; Human ; Male ; Muscle Fibers/pathology* ; Muscular Diseases/pathology ; Muscular Diseases/genetics*

No abstract available.
Asian Continental Ancestry Group ; Encephalitis, Japanese ; Humans ; Temporal Lobe

BACKGROUND: Nerve conduction study is an objective and quantitative diagnostic method for the diagnosis and follow-up study of polyneuropathy. Sometimes it is hard to interpret the nerve conduction study, because there are many segmental variables to test and uneven distribution of abnormalities in polyneuropathy. And there can be some interpersonal differences in the interpreting the results. It is obvious that one objective and quantitative value that represents the many segmental variables is helpful for the clinical interpretation and follow?up of polyneuropathy. METHODS: We evaluated 242 normal subjects and 71 patients with demyelinating polyneuropathy to find out a standardized representative value, distinguishing patients from normal subjects. The standardized representative value was made by combination of the some standardized segmental variables which showed marked differences between two groups. We evaluated the clinical usefulness of this value by comparing the sequential changes of this value with the clinical course. RESULTS: Statistically significant differences were present in each segmental value of the nerve conduction study between the groups of patients and normal persons. The diagnostic sensitivity of the segmental value was in range of 25.7%-81.8% in case of 2SD criteria. The diagnostic sensitivity of each functional standardized value - average of the segmental standardized values of same nature - was in range of 54.1%-89.9% in case of 2SD criteria. Using 3SD criteria the sensitivity was reduced to 20.9%-81.1%, more in sensory and mixed nerve than motor nerve. By combination of these functional standardized values, the diagnostic sensitivity could increase up to 79.1%-93.2% on 3SD criteria. CONCLUSION: The best combination which represents the NCV study is the average of the motor nerve terminal latency, the motor nerve conduction velocity, and the ratio of conduction block with 93.2% sensitivity and 100% specificity. This representative value well reflects the clinical course of patient in follow-up studies.
Diagnosis* ; Follow-Up Studies* ; Humans ; Neural Conduction* ; Polyneuropathies* ; Sensitivity and Specificity