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)

We describe a case of "hereditary progressive dystonia with marked diurnal fluctuation". The three-year-old girl had idiopathic progressive dystonia for 4 months. She had most of the characteristics described by Segawa in 1976 (small age of onset, marked diurnal fluctuation, predominant limb involvement, and dramatic relief of symptoms with small doses of L-dopa) except that there is no known family history. Her symptoms disappeared the second day after receiving L-dopa 20mg/kg/day. Dystonia would resume with the same speed if L-dopa was withdrawn. We have followed this case for more than one year till now. There is no dystonia or side-effect of drug at present. It is probably a sporadic case. The correct diagnosis and treatment is important for this kind of patient.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. 263 84

Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic. We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old. He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became completely bedridden at 6 years old. Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. The brain magnetic resonance imaging (MRI) done at the age of 8 years revealed symmetrical low signal intensity over the bilateral globus pallidi in the T2-weighted images coexistent with an area of high signal intensity over the anteromedial portion, known as "eye of the tiger" sign. Another MRI, followed up two years later, did not show marked difference in signal abnormalities over the globus pallidi in the T2-weighted images as compared with that of the previous one. However, progressive neurological deterioration existed.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Clinical and MRI study of the Hallervorden-Spatz syndrome: long-term follow-up of one case. 794 31

A 22-month-old female presented with developmental delay and dystonia. The T2 weighted image of the brain MRI showed bilateral symmetrical high signal lesions over the putamen. An increased serum lactate pyruvate ratio (29.25) and a positive oral glucose lactate stimulation test were noted. Electron microscopic examination showed abnormal mitochondrial aggregation with band cristae in the subsarcolemmal area. These findings were indicative of clinical Leigh's syndrome. However, unusually the mt DNA analysis showed a point mutation at the nucleotide position 8344.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Leigh syndrome presenting with dystonia: report of one case. 860 67