Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9 months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14 months and pre-existing motor delay. At age 4 years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.
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PMID:ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 2292 36

Progressive dystonias are a clinically and genetically heterogeneous group of movement disorders. In the primary forms, dystonia is the only sign of the disease, and the cause is either unknown or genetic. In the secondary forms, dystonia is usually only one of several disease manifestations and the cause may be genetic or due to other insults. Monogenic defects have been found to underlie many forms of dystonia syndromes, which are designated DYT1-20. Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders. All of these conditions follow an autosomal dominant mode of inheritance, usually develop in childhood or early adolescence, and show an initially progressive course with stabilization in early adulthood. In secondary dystonias, there are often atypical features and additional neurological signs, such as prominent tongue and perioral involvement, pyramidal signs, ataxia, oculomotor abnormalities, or cognitive disturbances. Acquired brain lesions typically affect the putamen, thalamus, or globus pallidus and cause contralateral hemidystonia. Dystonia can be part of the clinical syndrome in many heredodegenerative disorders, or may be drug-induced or psychogenic.
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PMID:Progressive dystonia. 2362 12