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Movement Disorders : Official Journal... May 2002Rasmussen's encephalitis is a rare autoimmune disorder characterized by intractable epilepsy and progressive hemispheric dysfunction. The disorder usually affects...
Rasmussen's encephalitis is a rare autoimmune disorder characterized by intractable epilepsy and progressive hemispheric dysfunction. The disorder usually affects children, although cases have been reported with symptom onset in late adolescence or adulthood. Myoclonus is common in Rasmussen patients, usually occurring as part of epilepsia partialis continua (EPC); however, other hyperkinetic movements are rare. This report documents a 19-year-old woman with Rasmussen's encephalitis whose clinical presentation was dominated by foot dystonia, arm athetosis, and EPC. Intravenous immunoglobulin improved both hyperkinetic movements and EPC, but benefit was transient. The clinical significance and implications of these findings are discussed.
Topics: Adult; Athetosis; Biopsy, Needle; Brain; Dystonia; Electroencephalography; Encephalitis; Epilepsies, Partial; Female; Humans; Immunoglobulins, Intravenous; Magnetic Resonance Imaging; Treatment Outcome
PubMed: 12112219
DOI: 10.1002/mds.10131 -
Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Nihon Naika Gakkai Zasshi. the Journal... Apr 2000
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Yonsei Medical Journal Feb 1996Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a... (Review)
Review
Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation is to clarify the clinical features of PKC in Korea. We clinically analyzed 20 patients with PKC between 1986 and 1994 at Yongdong Severance Hospital, Yonsei Medical Center, with a minimum of a 1 to 2 year follow-up period. There were 14 men and 6 women. The age at onset of the condition ranged from 8 to 17 years (mean, 13.1 years). Six patients (30%) had a family history of the condition and the mode of inheritance was suggestive of an autosomal recessive pattern. The involuntary movements seemed to be dystonic rather than choreoathetonic upon a mild attack, and the paroxysms were precipitated by sudden movements. The attacks occurred on one or both sides, and were often associated with dysarthria, upward gaze and sensory aura. Consciousness was never lost. Their duration were usually 10 to 30 seconds, and never more than two minutes. All laboratory tests including electroencephalographic and neuroimaging studies showed no abnormality. All patients responded well to diphenylhydantoin. PKC is not rare in Korea and has a benign course.
Topics: Adolescent; Athetosis; Child; Chorea; Female; Humans; Male; Movement; Phenytoin; Recurrence
PubMed: 8967112
DOI: 10.3349/ymj.1996.37.1.68 -
Neurology Jun 1962
Topics: Athetosis; Disease; Humans; Neck; Spinal Diseases; Spine; Spondylosis
PubMed: 13861319
DOI: 10.1212/wnl.12.6.410 -
Movement Disorders : Official Journal... Jan 2014
Topics: Athetosis; Autoantibodies; Chorea; Encephalitis, Herpes Simplex; Humans; Receptors, N-Methyl-D-Aspartate
PubMed: 24458319
DOI: 10.1002/mds.25716 -
Revista Medica de Chile Nov 1945
Topics: Athetosis
PubMed: 21010348
DOI: No ID Found -
Movement Disorders : Official Journal... Jan 2012
Topics: Adult; Athetosis; Brain; Dystonic Disorders; Female; Forkhead Transcription Factors; Humans; Magnetic Resonance Imaging; Mutation; Nerve Tissue Proteins; Parkinsonian Disorders
PubMed: 21953941
DOI: 10.1002/mds.23956 -
Annals of Emergency Medicine Nov 1994A case of lindane toxicity in a 24-year-old woman who used lindane shampoo for treatment of an alleged case of lice infestation is described. The patient experienced... (Review)
Review
A case of lindane toxicity in a 24-year-old woman who used lindane shampoo for treatment of an alleged case of lice infestation is described. The patient experienced uncontrolled motor activity that began approximately 2 hours after treatment and resolved approximately 48 hours later. A review of the literature revealed that most cases of acute lindane toxicity resulting from topical application have occurred in the pediatric and geriatric populations and are manifested by grand mal seizures. No case of acute lindane toxicity resulting from topical use was found in the emergency medicine literature. This case illustrates the toxic, neurologic effects of lindane in a young adult.
Topics: Acute Disease; Administration, Cutaneous; Adult; Athetosis; Female; Hallucinations; Hexachlorocyclohexane; Humans; Lice Infestations; Scalp Dermatoses; Soaps
PubMed: 7526752
DOI: 10.1016/s0196-0644(94)70215-2 -
The Journal of Neuropsychiatry and... 1989Two patients who developed choreoathetosis in the course of lithium treatment are described, and other cases of choreoathetosis in lithium-treated patients are reviewed.... (Review)
Review
Two patients who developed choreoathetosis in the course of lithium treatment are described, and other cases of choreoathetosis in lithium-treated patients are reviewed. Choreoathetosis is suggested to be a sign of lithium toxicity, almost always accompanied by other signs of neurotoxicity, such as delirium and cerebellar dysfunction. Of the reported cases, 44% developed permanent movement disorders, and 63% of the patients with permanent deficits were taking both lithium and neuroleptic. When choreoathetosis was not permanent, the average duration was seven days after discontinuation of lithium (range, 1 to 90 days).
Topics: Aged; Athetosis; Chorea; Clonazepam; Delirium; Depressive Disorder; Drug Therapy, Combination; Female; Haloperidol; Humans; Lithium; Male; Middle Aged; Sex Factors
PubMed: 2535431
DOI: 10.1176/jnp.1.1.57