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)

Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.
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PMID:Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 137 28

Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29-year-old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase-positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.
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PMID:Adult Chediak-Higashi parkinsonian syndrome with dystonia. 1092 82

Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene. And dystonia may develop as a late manifestation in typical AT. Here we report a novel homozygous frameshift ATM mutation (c.1402_1403delAA; p. K468Efs*18) in a 10-year-old male. The patient was diagnosed as typical AT according to clinical presentations which included progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, and cerebellar atrophy. The genetic finding confirmed the diagnosis. Severe dystonia was presented in late stage of this disease. After 3 months of trihexyphenidyl treatment, the frequency of dystonia was reduced significantly. Although dystonia is not uncommon in phenotype spectrum of AT, compared with other symptoms of this syndrome, such as cerebellar ataxia and dysarthria, dystonia can be treated.
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PMID:Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. 3169 Oct 10