Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia consists of involuntary repetitive twisting (torsion) or directional movements, sometimes leading to sustained postures. The movements are stereotyped and characterized by co-contraction of agonist and antagonist muscles. There is a broad clinical spectrum of dystonia which derives in part from the differential distribution of involvement. Dystonia may be localized, affecting a single body region, or generalized, affecting multiple extremities along with the trunk. Intermediate dystonic involvement can be described as segmental, designating two affected contiguous body regions, or multifocal, designating two or more noncontiguous affected body regions. Hemidystonia refers to dystonia affecting only one side of the body. Dystonia can also be categorized by age of onset and etiology. Early onset dystonia, occurring in childhood or adolescence (in some studies younger than 26 years old), is associated with more progressive disease [Greene et al. (1995). Mov. Disord. 10, 143]. In this age group, dystonia usually first appears in a limb and then spreads to involve other limbs and axial muscles; some early-onset patients may have involvement of laryngeal and other cranial muscles. Adult or late-onset dystonia typically begins in the neck, arm, or cranial muscles. Compared to early-onset dystonia, the area of involvement is more likely to remain focal or segmental. Dystonia can be considered either primary or nonprimary. Primary torsion dystonia (PTD), historically called dystonia musculorum deformans and Oppenheim's dystonia, describes dystonia in isolation, excepting tremor, without brain degeneration and without an identified acquired cause. Nonprimary or secondary dystonia encompasses a heterogeneous group of syndromes and etiologies including inherited (with or without brain degeneration), acquired, and complex neurological disorders. Monogenic forms of dystonia are labeled DYT and enumerated in the order in which they were discovered. The current 20 DYT loci comprise a heterogeneous group of disorders. (Table I) They can be divided into PTDs, dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias. There are many neurodegenerative genetic disorders that share dystonia as a common feature of disease (Table II). This chapter will review the genetics of PTD, dystonia-plus syndromes without brain degeneration, and X-linked dystonia-parkinsonism. Other genetic dystonia-parkinsonism syndromes and the paroxysmal dyskinesias will not be discussed.
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PMID:Genetics and pharmacological treatment of dystonia. 2190 99

While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the 'modern history' of dystonia genetics dates back to 1994 when mutations in the GTP cyclohydrolase I gene were discovered to cause dopa-responsive dystonia. Due to the advent of next-generation sequencing, the field of dystonia genetics has been evolving very rapidly over the past two years, resulting in the reporting of 'DYT1-25' and, for the first time, in the identification of genes associated with adult-onset focal/segmental dystonia. However, three of these putative new genes still await independent confirmation (TUBB4/DYT4; CIZ1/DYT23; ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. Based on a recent consensus approach, dystonias are subdivided on clinical grounds into isolated (with or without tremor) and combined (with other movement disorders) forms. Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25. In the combined forms, dystonia is accompanied by parkinsonism (GCH1/DYT5a; TH/DYT5b; ATP1A3/DYT12; TAF1/DYT3) or myoclonus (SGCE/DYT11). Persistent and paroxysmal forms are distinguished according to their temporal pattern. The paroxysmal forms of dystonia/dyskinesias present with a mixed pattern of hyperkinetic movement disorders (PRRT2/DYT10; MR-1/DYT8; SLC2A1/DYT18).
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PMID:Genetics in dystonia. 2426 66

Hypertrophic olivary degeneration (HOD) is a rare form of trans-synaptic degeneration characterized by hypertrophy of the inferior olivary nucleus situated in the olivary body, part of the medulla oblongata, representing a major source of input to the cerebellum. HOD typically results from focal lesions interrupting connections from the inferior olive within the dentato-rubro-olivary pathway (DROP), a region also known as the Guillain-Mollaret triangle (GMT) (red nucleus, inferior olivary nucleus, and contralateral dentate nucleus). Clinically, HOD presents classically as palatal tremor and can include dentatorubral tremor and/or ocular myoclonus. Oppenheim first described the enlargement of the ION in his post-mortem study. Since then, a limited number of cases have been reported in the literatures. Thus, we intended to describe the definition, pathophysiology, clinical features, radiological features, diagnosis, and current management of HOD. We provide a comprehensive review of HOD focusing on etiology. The present review may lead to a better understanding of HOD clinical characteristic with the goal of contributing to existing knowledge of this rare disease.
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PMID:Hypertrophic olivary degeneration: A comprehensive review focusing on etiology. 3102 59