Tremor, Hereditary Essential, 1; Etm1

Description

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

Clinical Features

Top most frequent phenotypes and symptoms related to Tremor, Hereditary Essential, 1; Etm1

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever
  • Tremor
  • Gait disturbance
  • Fatigue
  • Dystonia
  • Cerebral atrophy

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Tremor, Hereditary Essential, 1; Etm1 Is also known as fet1, tremor, familial essential, 1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Tremor, Hereditary Essential, 1; Etm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DRD3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DRD3
Specificity
100 %
Genes
100 %
Hereditary essential tremor (sequence analysis of DRD3 gene).

By CGC Genetics (Portugal).

DRD3
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
DRD3.

By Fulgent Genetics Fulgent Genetics (United States).

DRD3
Specificity
100 %
Genes
100 %
Schizophrenia, susceptibility to.

By Bioarray (Spain).

DRD3
Specificity
100 %
Genes
100 %
Schizophrenia Susceptibility to , Sequencing DRD3 Gene.

By Reference Laboratory Genetics (Spain).

DRD3
Specificity
100 %
Genes
100 %
Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes.

By Reference Laboratory Genetics (Spain).

TENM4, DRD3, FUS
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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