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Tremor, hereditary essential, 1

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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 Tremor Other forms of hereditary essential tremor include ETM2 (602134), mapped to chromosome 2p25-p22; ETM3 (611456), mapped to chromosome 6p23; ETM4 (614782), caused by mutation in the FUS gene (137070) on chromosome 16p11; ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14; and ETM6 (618866), caused by mutation in the NOTCH2NLC gene (618025) on chromosome 1q21.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

13

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Genes

External Links

  • OMIM

    190300

  • Orphanet
  • HPO
  • Medgen

    C1860861

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