Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
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

Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha-fetoprotein are nearly always elevated in AOA2 and thus narrowing down the differential diagnosis list. We present 3 video cases illustrating and expanding the clinical spectrum of AOA2, with 1 case bearing a novel mutation with cervical dystonia as the first symptom, the absence of neuropathy, and a disease onset beyond the age of 40. Furthermore, all patients were assessed by oculographic analysis, which revealed distinct patterns of oculomotor abnormalities. The clinical spectrum of AOA2 might be even broader than previously described in larger series. Oculography might be a useful tool to detect subclinical oculomotor apraxia in this disorder.
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PMID:The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. 3036 66