Presentation
Do our patients present an “essential tremor variant”? 3 Some features are not in favour of such a hypothesis. [jnnp.bmj.com]
Ortadoğu Advertisement Presentation Publishing Tourism Education Architecture Industry and Trade Inc. will be pleased to hear your comments about our terms of use. [turkiyeklinikleri.com]
Future challenges are also presented. [books.google.com]
Email: [email protected] m A five-year-old, developmentally-normal girl presented with involuntary, intermittent trembling of the chin noted since early infancy ( Web Video 1 and Fig. 1 ). There were no triggering-factors. [indianpediatrics.net]
Entire Body System
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Movement Disorder
These findings may have implications for other inherited focal movement disorders that as yet remain unmapped. [ncbi.nlm.nih.gov]
NIH Rare Diseases : 54 Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. [malacards.org]
disorders ... 2 ... [familydiagnosis.com]
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Turkish
[…] of Turkish conflict of laws. [turkiyeklinikleri.com]
Respiratoric
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Hoarseness
Speech quality tends to be soft, hoarse, and monotonous. Some people with Parkinson's disease claim that their tongue is “heavy” or have cluttered speech. Monotonic speech. Festinating speech: excessively rapid, soft, poorly-intelligible speech. [google.ch]
Cardiovascular
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Vascular Disease
SUBJECTS--Trials of antiplatelet therapy versus control included about 70,000 "high risk" patients (that is, with some vascular disease or other condition implying an increased risk of occlusive vascular disease) and 30,000 "low risk" subjects from the [mafiadoc.com]
Apparatus and method for treating atherosclerotic vascular disease through light sterilization US6569463B2 ( en ) * 1999-11-23 2003-05-27 Lipocine, Inc. [google.ch]
Musculoskeletal
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Long Arm
Construction of haplotypes defined an interval of 2.1 cM between the flanking markers D9S1806 and D9S175, thus assigning one locus for hereditary geniospasm to the proximal long arm of chromosome 9q13-q21. [ncbi.nlm.nih.gov]
Construction of haplotypes defined an interval of 2.1 cM between the flanking markers D9S1806 and D9S175, thus assigning one locus for hereditary geniospasm to the proximal long arm of chromosome 9q13-q21 [1]. [wikigenes.org]
A linkage to markers on the long arm of chromosome 9 (9q13–21) has been shown ( 43 ), but families without this linkage have also been described ( 44 ). Botulinum toxin has been used to control the jerks of the mentalis muscle ( 45 ). [neupsykey.com]
Psychiatrical
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Suggestibility
Although the exact gene that causes the condition is unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families. [malacards.org]
The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus. hereditary chin trembling autosomal dominant; Statistics from [jnnp.bmj.com]
Electrophysiological studies have suggested these to be a form of subcortical myoclonus, and Hereditary chin myoclonus has been proposed to be a better term to describe these movements. [indianpediatrics.net]
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]
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Fear
For smallpox was more feared by the Indian than the bullet, the white fur traders and settlers did their part during the 1800s to foster fear in the natives with threats and warnings that they would unleash the smallpox upon them. [wikivividly.com]
fear, cold) or as a movement disorder. [tremorjournal.org]
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Anxiety Disorder
disorders in primary care Allet et al. 2010 Wearable systems for monitoring mobility-related activities in chronic disease: a systematic review Tabak et al. 2014 A telehealth program for self-management of COPD exacerbations and promotion of an active [google.ch]
Face, Head & Neck
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Facial Spasm
spasm”, “Ein streng dominant erbliches kinnmuskelzittern”, “familial trembling of the chin”, “hereditary quivering of the chin”, and “trembling chin”. [jnnp.bmj.com]
Neurologic
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Tremor
Similar-looking movements may be observed in association with essential tremor, palatal tremor and facial myokymia. Close mimickers also include Essential tremor of the jaw and tremors-of-the-smile. [indianpediatrics.net]
The main forms of tremor encountered during clinical practice are considered, taking into account neuroimaging aspects. [books.google.com]
MalaCards based summary : Hereditary Geniospasm, also known as hereditary chin tremor/myoclonus, is related to geniospasm 1 and tremor. An important gene associated with Hereditary Geniospasm is GSM1 (Geniospasm 1). [malacards.org]
Abstract Hereditary geniospasm is an unusual movement disorder causing episodes of involuntary tremor of the chin and the lower lip. Episodes typically start in early childhood and may be precipitated by stress, concentration, and emotion. [ncbi.nlm.nih.gov]
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Myokymia
Similar-looking movements may be observed in association with essential tremor, palatal tremor and facial myokymia. Close mimickers also include Essential tremor of the jaw and tremors-of-the-smile. [indianpediatrics.net]
[…] and proposed the term “familial myokymia of the chin”. 14 Myokymiae are in fact very different from what was found in our patients. [jnnp.bmj.com]
Gutmann L and Gutmann L (2004) Myokymia and neuromyotonia 2004. J Neurol 251 : 138–142 57. Fernandez M et al. (2001) Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 49 : 486–492 58. [nature.com]
Symptom Differential diagnoses Ataxia Episodic ataxia without myokymia Episodic ataxia with myokymia Episodic ataxia with paroxysmal choreoathetosis Paroxysmal tonic upgaze with ataxia Familial periodic ataxias Dyskinesia Paroxysmal dystonic choreoathetosis [neupsykey.com]
PA are now identified as channelopathies with mutations in the potassium channel (PA with myokymia and neuromyotonia) and the calcium channel gene (azetazolamide-responsive PA). [mafiadoc.com]
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Abnormal Involuntary Movement
No member of this family, with or without an abnormal involuntary movement of the chin, had other abnormal involuntary movements. Electrophysiological studies were carried out on the proband. [jnnp.bmj.com]
It was described as a tremulous movement of the chin, but the man said that he had once noted abnormal involuntary movement spreading to the upper lip. [bio2rdf.org]
Hyperkinetic disorders are characterized by abnormal involuntary movement. [functionalneurosurgery.net]
involuntary movements affecting additional body parts, and the tremor frequency usually does not exceed 12 Hz. [tremorjournal.org]
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Tremulousness
(see video at website) Chin-trembling or geniospasm is a rare movement disorder, caused by continuous or intermittent tremulous activity of the mentalis muscle. It may be familial (autosomal-dominant) or sporadic. [indianpediatrics.net]
On examination a quick, up and down, tremulous bilateral movement was sometimes spontaneously seen at the tip of his chin for a few minutes. [jnnp.bmj.com]
It was described as a tremulous movement of the chin, but the man said that he had once noted abnormal involuntary movement spreading to the upper lip. [bio2rdf.org]
Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. Parkinsonism Relat Disord 2013;19:634–638. doi: 10.1016/j.parkreldis.2013.02.017. 89. Agostino R, Berardelli A, Formica A, Accornero N, Manfredi M. [tremorjournal.org]
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Myoclonic Jerking
Myoclonic jerks, predominantly in non-REM sleep, are noted in the majority of cases [ 1, 3 ]. In our case, myoclonic jerks were observed in both REM and non-REM sleep. No consensus for treatment exists for this condition. [omicsonline.org]
Small myoclonic jerks (minipolymyoclonus) may occur in children with chronic spinal muscular atrophy. Treatment — The idiopathic, generalized, or segmental forms of myoclonus may improve with drug therapy. [functionalneurosurgery.net]
MYOCLONUS Benign Neonatal Myoclonus Benign neonatal myoclonus is characterized by neonatal onset and myoclonic jerks that are repetitive, can be symmetric, and occur in clusters lasting for several minutes before stopping spontaneously. [neupsykey.com]
Treatment
More on Diagnosis of Hereditary geniospasm » Genetics of Hereditary geniospasm Treatments: Hereditary geniospasm Treatment : Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign [familydiagnosis.com]
Two new families with hereditary essential chin myoclonus: clinical features, neurophysiological findings and treatment. Neurol Sci. June 2006; 27(2):97-103. [rarediseases.info.nih.gov]
In addition to pharmacological treatments, neurosurgical approaches such as deep brain stimulation (DBS) and thalamotomy are discussed. Emerging techniques under development are also introduced. Future challenges are also presented. [books.google.com]
Treatment is usually not required; benzodiazepines, haloperidol, phenytoin and botulinum toxin have been tried in desperate situations with limited success. [indianpediatrics.net]
If severe and it requires treatment, there are a few medication options though this condition is not very common, and the research that has been done on its treatment is limited. [medhelp.org]
Prognosis
[email protected] BACKGROUND AND PURPOSE: The etiology of ischemic stroke affects prognosis, outcome, and management. [mafiadoc.com]
Symptoms usually resolve with surgical intervention, and prognosis improves with earlier diagnosis ( 25 ). [neupsykey.com]
[…] can be identified and there is no consistently associated brain pathology, a combination traditionally described as “primary dystonia.” 14 Dystonia may emerge at any age, and age at onset is a relevant variable for the clinical presentation and the prognosis [tremorjournal.org]
Etiology
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]
The etiology of jitteriness may not be known, but secondary causes can include drug withdrawal, metabolic derangements, and hypoxic ischemic encephalopathy. [neupsykey.com]
Jannetta PJ et al. (1977) Etiology and definitive microsurgical treatment of hemifacial spasm: operative techniques and results in 47 patients. J Neurosurg 47 : 321–328 62. [nature.com]
Its etiology is unknown. Different therapeutic regimens have been used with variable success. [mafiadoc.com]
Tremor: etiology, phenomenology, and clinical features. Dis Mon 2011;57:109–126. 88. Rubio-Agusti I, Parees I, Kojovic M, et al. Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. [tremorjournal.org]
Epidemiology
Original 38 Downloads 24 Citations Abstract Current epidemiologic data on the association between environmental factors and essential tremor (ET) are scanty. [link.springer.com]
Defazio G et al. (2004) Epidemiology of primary dystonia. Lancet Neurol 3 : 673–678 7. Defazio G et al. (2007) Do primary adult-onset focal dystonias share aetiological factors? Brain 130 : 1183–1193 8. [nature.com]
Epidemiology and genetics of essential tremor. Mov Disord 1998;13(Suppl. 3):55–63. 35. Elble RJ. Essential tremor frequency decreases with time. Neurology 2000;55:1547–1551. doi: 10.1212/WNL.55.10.1547. 36. [tremorjournal.org]
This contribution reviews the main clinical, epidemiological, pathophysiological, and treatment issues on tics and Gilles de la Tourette syndrome. [mafiadoc.com]
Pathophysiology
This book discusses the pathophysiology of tremor including membrane mechanisms and rodent models, the advances in genetics and the musculoskeletal models pertinent to body oscillations. [books.google.com]
Cruccu G et al. (1994) Pathophysiology of hemimasticatory spasm. J Neurol Neurosurg Psychiatry 57 : 43–50 81. [nature.com]
The pathophysiological basics of hereditary chin myoclonus are not well understood up to now; electrophysiological findings suggest a subcortical genesis. We show videos of a four generation family with chin myoclonus. [thieme-connect.com]
The pathophysiology of tremor. Muscle Nerve 24: 716–735, 2001 Lorenz and Deuschl. Update on pathogenesis and treatment of essential tremor. Current Opinion in Neurology. [sgh-neurology.wikidot.com]
Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family. Movement Disorders 2000; 15: 648 - 57. Jarman PR, Kehley AM, Mather HM. Hyperkalaemia and apple juice. Lancet 2001;358: 841. [uclh.nhs.uk]
Prevention
Views How To Eliminate, Prevent & Reverse The Way Our Body Ages & Dies Basic nutrition is often thought of in terms of Carbohydrates, Fats and Proteins. [momentumhealth.net]
A hernia during pregnancy is not expected Treatment and Prevention. [msb-innocat.eu]
"Force majeure" term will be regarded as outside of the concerned party's reasonable control and any situation that "Turkiye Klinikleri" cannot prevent even though it shows due diligence. [turkiyeklinikleri.com]
Prevention and treatment of peripheral neuropathy US5750104A ( en ) * 1996-05-29 1998-05-12 Digestive Care Inc. [google.ch]
Cerebral ischemia: treatment and prevention. [mafiadoc.com]