Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Movement disorders have only rarely been reported in association with antiphospholipid syndrome (APS). In such cases, chorea is the most common disorder observed, with occasional reports of hemidystonia, Parkinsonism, and hemiballism. We report here on 3 cases of APS (3 women ages 16, 46, and 56 years) who presented with movement disorders, including tics, tremor, myoclonus, and a corticobasal syndrome, never or rarely reported in association with this disease. Mild executive dysfunction was observed in all 3 patients. We also report the successful treatment of two of these patients with mild oral anticoagulation (INR 2-3). Movement disorders in APS seem more clinically heterogeneous than previously thought. Oral anticoagulation should be considered in the treatment of movement disorders associated with APS.
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PMID:Atypical movement disorders in antiphospholipid syndrome. 1653 18

All varieties of movement disorders may be mimicked by a psychogenic disorder, most commonly tremor, dystonia, and myoclonus. Approximately 3% of patients seen in specialty clinics have a psychogenic movement disorder (PMD). The diagnosis of a PMD depends on not just ruling out an organic movement disorder, but moreover, recognizing features from the history and examination that are inconsistent or incongruous with an organic movement disorder. Most PMDs represent a conversion disorder, sometimes as part of a somatoform disorder; less common diagnoses include a factitious disorder or malingering. Co-morbid psychiatric illness is prevalent in patients with PMD including depression, anxiety, and personality disorders. Many PMDs remain chronic, but a multidisciplinary approach centering on psychiatric intervention can be successful. A shorter duration of symptoms and a co-existent treatable psychiatric disorder portend a better prognosis, whereas compensation and pending litigation are associated with a poorer prognosis.
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PMID:Psychogenic movement disorders. 1679 75

Mutations of epsilon-sarcoglycan gene (SGCE) have been implicated in myoclonus-dystonia (M-D), a movement disorder. To determine the pathophysiology of M-D, we produced Sgce knockout mice and found that the knockout mice exhibited myoclonus, motor impairments, hyperactivity, anxiety, depression, significantly higher levels of striatal dopamine and its metabolites, and an inverse correlation between the dopamine and serotonin metabolites. The results suggest that the diverse symptoms associated with M-D are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems. Therefore, antipsychotic agents and serotonin reuptake inhibitors may offer potential benefits for M-D patients.
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PMID:Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. 1681 60

Hereditary essential chin myoclonus (HECM) is a rare movement disorder characterised by involuntary and irregular twitches of the chin. It can be considered a benign, focal variant of hereditary essential myoclonus. We studied two families that had several members suffering from HECM. Both families showed an autosomal dominant transmission with incomplete penetrance. Extensive neurophysiological studies were carried out on three patients. The results confirmed the myoclonic nature of phenotypical appearance and allowed identification of the subcortical origin of the myoclonus. The neurophysiological mechanisms underlying HECM are still unknown. It is supposed that pontine reticular formation, not controlled by superior centers, may be responsible of an abnormal activation of motor neurons innervating mentalis muscle. We treated three patients with periodic injections of botulinum toxin; a complete disappearance of chin myoclonus improved their quality of life.
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PMID:Two new families with hereditary essential chin myoclonus: clinical features, neurophysiological findings and treatment. 1681 5

Tics, patterned movements distinct from stereotypies, myoclonus, and other hyperkinetic movements, are quite common in children, particularly among those with developmental and psychiatric disorders. Thus, tics can indicate the presence of atypical neurodevelopment or broader difficulties with cognition or mood. Tics are also the cardinal feature of Tourette syndrome, a childhood-onset neurobehavioral disorder characterized by a chronic inability to suppress or an urge to perform patterned, repetitive movements. Patients with Tourette syndrome most commonly have, in addition to tics, symptoms of inattention, hyperactivity, obsessiveness, or anxiety. Achieving the most effective treatment of a child with tics is contingent on proper diagnosis of the movement disorder and thorough assessment for other problems, followed by consideration of both nonpharmacologic and pharmacologic interventions for any and all symptoms interfering with the child's function and quality of life. This review focuses primarily on the diagnosis and medical treatment of tics in children and adolescents with Tourette syndrome.
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PMID:Treatment of children and adolescents with tics and Tourette syndrome. 1697 Aug 70

Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G-->A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT-PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.
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PMID:Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. 1707 19

Opsoclonus-myoclonus syndrome (OMS), a movement disorder characterised by chaotic eye movements and myoclonus, is a rare clinical entity. We present two cases of opsoclonus-myoclonus syndrome of paraneoplastic origin. In the first patient the syndrome was associated with a breast carcinoma and in the second patient with a non small cell lung carcinoma. However none of the commonly associated antibodies were found in these cases. From the neuropathological findings from the first patient we find arguments that support the current hypothesis on the pathophysiology of OMS namely a dysfunction in brainstem and cerebellum. We conclude that in adults with OMS one has to be very suspicious of a possible neoplastic origin of the syndrome. The antibodies associated with some cases of OMS are thought to play a role in the pathophysiology of the syndrome although the exact immunologic mechanism remains unknown. Research into the neuropathological substrate of OMS yields a broad range of abnormalities in brain stem and cerebellum. However none of these findings seem to be pathognomonic. As for the possible therapy of OMS, several immunomodulating strategies can be used with varying success. At present there is no established standard therapy.
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PMID:Opsoclonus-myoclonus syndrome: a clinicopathological confrontation. 1709 18

We sought to review the long-term tolerability of tetrabenazine (TBZ) and seek determinants of tolerability in the treatment of hyperkinetic movement disorders. A retrospective chart review was performed on patients treated with TBZ between 1997 and 2004. Efficacy of TBZ was assessed by a 1- to 5-point response scale (1 = marked reduction in abnormal movements, 5 = worsening). All adverse events (AEs) were captured according to their relationship with study drug. A total of 448 patients (42% male) were treated for a variety of hyperkinesias, including tardive dyskinesia (n = 149), dystonia (n = 132), chorea (n = 98), tics (n = 92), and myoclonus (n = 19). The mean age at onset of the movement disorder was 43.0 +/- 24.2 years, with TBZ starting at a mean age of 50.0 +/- 22.3 years. Patients remained on treatment for a mean of 2.3 +/- 3.4 years. An efficacy response rating of 1 or 2 was sustained in the majority of patients between the first and last visit. Common AEs included drowsiness (25.0%), Parkinsonism (15.4%), depression (7.6%), and akathisia (7.6%). Comparison of log-likelihood ratios revealed that age was a reliable predictor of Parkinsonism (P < 0.0001). TBZ is a safe and effective drug for the long-term treatment of hyperkinetic movement disorders.
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PMID:Long-term tolerability of tetrabenazine in the treatment of hyperkinetic movement disorders. 1713 12

The pathophysiology of myoclonus-dystonia (M-D), an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic contractions, is largely unknown. In the present study, local field potential (LFP) activities in the globus pallidus internus (GPi) from two genetically proven M-D patients are investigated. Coherence analysis between GPi LFP activity and electromyographic muscle activity (EMG) and synchronization of GPi neuronal activity using event-related spectral perturbation (ERSP) in a go-no-go paradigm were studied. Significant increased coherence in the 3 to 15 Hz frequency band was detected between GPi LFP activity and several muscles, with the LFP leading the muscles. The ERSP analysis revealed synchronization in the 3 to 15 Hz frequency band within the GPi before the imperative cue of the go-no-go task and desynchronization in the same band after the cue. The LFP recordings of the GPi in M-D show that the low-frequency band previously described in dystonia is also involved in the dystonia plus syndrome M-D. The 3 to 15 Hz synchronization in the go-no-go paradigm has not been described previously and may point to the existence of (myoclonus-)dystonia specific oscillatory activity in the GPi.
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PMID:Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. 1721 49

Myoclonus, an involuntary movement disorder reveals itself with a wide variety of short muscle twitches or jerks, and may cause severe disability. From a clinical perspective, it is sometimes difficult to discriminate myoclonus from other central movement disorders. Moreover, myoclonus has a spectrum of causes including rare neurological syndromes and uncommon manifestations of systemic disease. Its pathogenesis is only partially understood. Neurophysiologic investigations suggest a close relationship between certain types of myoclonic jerking and epilepsy. The use of anticonvulsants for treatment of myoclonus has its basis in such observations and empirical evidence. Often high doses or a combination of drugs, or both are required, with, however, serious side effects.
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PMID:[Myoclonus]. 1722 14


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