Phenotypes associated with the disease tremor, hereditary essential, 6 (OMIM:618866, an entry in Online Mendelian Inheritance in Man):
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 0/1. (PMID:31819945)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:31819945)
- Postural tremor (HP:0002174, a Human Phenotype Ontology term): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:31819945)
- Kinetic tremor (HP:0030186, a Human Phenotype Ontology term): Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. Evidence: PCS. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:31819945)
- Intranuclear inclusion bodies (HP:0020068, a Human Phenotype Ontology term): Inclusion bodies (deposits of stainable material, usually misfolded proteins) localized in the nucleus. Evidence: TAS. (OMIM:618866)
- Vocal tremor (HP:0012477, a Human Phenotype Ontology term): A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. Evidence: PCS. Frequency: 24/197. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:31819945)
- Leukodystrophy (HP:0002415, a Human Phenotype Ontology term): Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. Evidence: PCS. Frequency: 0/1. (PMID:31819945)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31819945)
- Head tremor (HP:0002346, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement affecting head movement. Evidence: PCS. Frequency: 74/197. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:31819945)