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)

The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.
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PMID:Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 1547 76

Primary dystonia is a movement disorder characterized by involuntary and sustained muscle contractions causing twisting or abnormal postures and mutations in several genes have been identified. Our goal was to investigate, whether the clinical presentation would differ between patients with a positive family history, and patients without. Furthermore, we have performed mutation analysis in the subgroup of patients with a positive family history. A total of 175 patients with primary dystonia were evaluated. Data on gender, presence and frequency of pain and tremor, age of onset, and the distribution of affected body parts were compared between patients with positive and negative family history. All exons of the torsion dystonia 1, GTP cyclohydrolase 1 and epsilon-sarcoglycan genes were examined in 40 patients by SSCP analysis of PCR products followed by sequencing of variant conformers. Dystonia patients with a positive family history of dystonia had an earlier age of onset and those with a positive family history of tremor more often associated tremor than those with a negative family history. Four new polymorphisms in the epsilon-sarcoglycan gene were found and others confirmed, but no known or new mutations could be detected. Our study supports the notion that primary dystonia is a genetically heterogeneous disease.
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PMID:Clinical and molecular genetic evaluation of patients with primary dystonia. 1567 1

Irving S. Cooper was a pioneer in the field of functional neurosurgery. During his very productive and controversial career, he proposed the surgical treatment of Parkinson disease (PD) by ligating the anterior choroidal artery to control tremor and rigidity. Subsequently, he developed seminal techniques for chemopallidectomy and cryothalamectomy for PD. He also attempted to use electrical stimulation of the cerebellum or the thalamus to treat spasticity. Cooper continued his work on brain stimulation until his death in 1985. He made video recordings of nearly all of his patients during his tenure (1977-1985) at New York Medical College. Cooper's clinical video recordings were reviewed, and selected footage was compiled into a video history of Cooper's surgical management of various movement disorders. Included are pre-, post-, and some intraoperative recordings that Cooper made to document his treatment of patients with PD, tremor, Wilson disease, cerebral palsy, chorea, dystonia musculorum deformans, and some rarer entities.
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PMID:Irving S. Cooper and the early surgical management of movement disorders. Video history. 1660 79

Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled "Advances in dystonia".
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PMID:Genetic and clinical features of primary torsion dystonia. 2116 99

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

Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). Currently, 19 loci including 10 genes have been identified for inherited dystonias. In this review, the phenotypes associated with these loci and the responsible genes will be discussed.
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PMID:Genetics of dystonia. 2226 82


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