Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia has been described in various genetically proven spinocerebellar ataxias (SCAs), most often in SCA3, SCA17, and SCA2 patients. In this report, we describe different types of dystonia observed in 5 of our 11 SCA2 patients. All our patients had cranial and/or cervical dystonia with focal or segmental distribution. Except for 1 case with isolated cervical dystonia, all other patients had lower cranial affection of variable severity. Although it is difficult to describe ataxia-dystonia syndrome that would be highly characteristic for SCA2, we suggest that occurrence of dystonia in a patient with slowly evolving cerebellar disease should, besides SCA3 and SCA17, also suggest SCA2 testing. In patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 should be considered during the diagnostic workup.
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PMID:Dystonia in Patients With Spinocerebellar Ataxia Type 2. 3071 20

Several morphological changes, centered in/around Purkinje cells (PCs), have been identified in the cerebellum of essential tremor (ET) patients. These changes have not been contextualized within a broader degenerative disease spectrum, limiting their interpretability. To address this, we compared the severity and patterning of degenerative changes within the cerebellar cortex in patients with ET, other neurodegenerative disorders of the cerebellum (spinocerebellar ataxias (SCAs), multiple system atrophy (MSA)], and other disorders that may involve the cerebellum [Parkinson's disease (PD), dystonia]. Using a postmortem series of 156 brains [50 ET, 23 SCA (6 SCA3; 17 SCA 1, 2 or 6), 15 MSA, 29 PD, 14 dystonia, 25 controls], we generated data on 37 quantitative morphologic metrics, which were grouped into 8 broad categories: (1) PC loss, (2) heterotopic PCs, (3) PC dendritic changes, (4) PC axonal changes (torpedoes), (5) PC axonal changes (other than torpedoes), (6) PC axonal changes (torpedo-associated), (7) basket cell axonal hypertrophy, (8) climbing fiber-PC synaptic changes. Our analyses used z scored raw data for each metric across all diagnoses (5772 total data items). Principal component analysis revealed that diagnostic groups were not uniform with respect to cerebellar pathology. Dystonia and PD each differed from controls in only 2/37 metrics, whereas ET differed in 21, SCA3 in 8, MSA in 19, and SCA1/2/6 in 26 metrics. Comparing ET with primary disorders of cerebellar degeneration (i.e., SCAs), we observed a spectrum of changes reflecting differences of degree, being generally mild in ET and SCA3 and more severe in SCA1/2/6. Comparative analyses across morphologic categories demonstrated differences in relative expression, defining distinctive patterns of changes in these groups. Thus, the degree of cerebellar degeneration in ET aligns it with a milder end in the spectrum of cerebellar degenerative disorders, and a somewhat distinctive signature of degenerative changes marks each of these disorders.
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PMID:Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. 3131 29

Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time. On a molecular level, it occurs due to a CAG trinucleotide repeat expansion in the ATXN3 gene. Due to the risk of pulmonary aspiration, hypoventilation, autonomic and thermoregulatory dysfunction, vocal cord paralysis, progressive paraplegia, parkinsonian symptoms, and chronic pain, it has significant anesthesia implications. Rarely, case reports occur in the literature describing regional anesthetic management of patients with SCA3, but none that describe general anesthesia specifically with MJD. We therefore describe a case of a patient with SCA3 who successfully underwent general anesthesia and considerations for perioperative management of this patient population.
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PMID:Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease. 3193 55


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