IllnessTremor, hereditary essential

NGS +

Essential tremor is a common movement disorder characterized mainly by bilateral tremor (postural and/or kinetic) in the upper limbs, but it may also spread to other parts of the body. Phenotypically, essential tremor manifests as mildly asymmetric during voluntary movements. The motor manifestations may be accompanied by non-motor symptoms (REM sleep disturbance, cognitive dysfunction, sensory abnormalities, dysautonomia symptoms, depression). Essential tremor can occur from childhood to old age. Despite possible secondary environmental influences, family history and age are considered as the most prevalent risk factors for essential tremor. The importance of genetic risk factors has also been demonstrated by the identification of genetic variants in family and twin studies, gene association studies, and genome-wide association studies. Nevertheless, only statistically validated genetic associations and susceptibility factors have been identified to date. Referenz: www.ncbi.nlm.nih.gov/pmc/articles/PMC7394223/

• Alias: Essential tremor, hereditary
• Allelic: Amyotrophic lateral sclerosis 6, with(-out frontotemporal dementia (FUS)
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• Allelic: Epileptic encephalopathy, early infantile, 41 (SLC1A2)
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• Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Mental retardation, AR 64 (LINGO1)
• Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
• Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
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• Allelic: Oculopharyngodistal myopathy 3 (NOTCH2NLC)
• Allelic: Orofacial cleft 1 genomic region (STK32B)
• Allelic: Paramyotonia congenita (SCN4A)
• Allelic: Schizophrenia, susceptibility to (DRD3)
• Essential tremor, hereditary, 1 (DRD3)
• Essential tremor, hereditary, 4 (FUS)
• Essential tremor, hereditary, 5 (TENM4)
• Essential tremor, hereditary, 6 (NOTCH2NLC)
• Tremor, hereditary essential, 6 (NOTCH2NLC)