GTR Home > Conditions/Phenotypes > Hereditary essential tremor 1

Summary

Dominantly inherited essential tremor was recognized by Dana (1887). It 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. Beta-adrenergic blocking agents and primidone, established treatments for the disorder, are only partially effective and have significant side effects. Autosomal dominant inheritance can be demonstrated in most families. Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential Tremor Other mapped loci for hereditary essential tremor include ETM2 (602134) on chromosome 2p25-p22 and ETM3 (611456) on chromosome 6p23. ETM4 (614782) is caused by mutation in the FUS gene (137070) on chromosome 16p11. [from OMIM]

Available tests

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Clinical tests (2 available)

Associated genes

Clinical features

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  • Hand tremor
  • Dysarthria
  • Postural tremor
  • Action tremor

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