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)

Two cases of calcification of Striopallidodentate System will be considered. The first refers to a 20-years-old patient and features two small bilateral and symmetrical calcifications in the medial segment of globus pallidum. The first symptom, observed from the age 5 years was, behaviour disorder and, some years later, dystonia. The second case refers to a 54-years-old patient and features huge bilateral and symmetrical calcifications above and below the tentorium. The first symptoms started at the age of 32 with paraesthesiae and muscular contractions of the upper limbs, later with convulsive seizures and tetany and eventually right hemiplegia with aphasia. Study of Ca and P metabolism showed normoparathyroidism in the first case and idiopathic hypoparathyroidism in the second.
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PMID:[Striopallidodentate calcifications. Report of two cases (author's transl)]. 734 49

A case of hypoparathyroidism accompanied with Turner's syndrome is reported. On admission, a 44-year-old woman had facial dystonia, deafness, and primary amenorrhea. Laboratory examinations showed a decrease in serum PTH and mosaicism of 45,X and 46,XX(6:34). A brain CT revealed marked calcification in the basal ganglia, cerebellum and periventricular area. Antiparkinsonian drugs were found to be effective for the dystonia. This case therefore suggests that some relationship may exist between intracranial calcification and Turner's syndrome.
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PMID:Primary hypoparathyroidism in Turner's syndrome. 877 66

A 23-year-old woman with a history of episodic stiffening of the limbs since her early adolescence, reported attacks of muscle contraction accompanied by feelings of panic but without loss of consciousness. Epileptic seizures, e.g. progressive myoclonic epilepsy, metabolic encephalopathy, dystonia and tetany were suggested. During the examination, muscle contraction could be provoked whilst measuring the blood pressure. Tetany based on primary hypoparathyroidism was diagnosed from the medical history as well as the neurological examination. This was confirmed by laboratory tests. She was successfully treated with calcium and I-alpha-(OH)2 vitamin D3.
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PMID:[Clinical thinking and decision making in practice. A young women with muscle cramps]. 1137 Apr 26

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age of twenty. Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features. Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA.
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PMID:Kearns Sayre Syndrome--case report with review of literature. 2385 60

Hypocalcaemia is an established cause of neurological and psychiatric disease with numerous clinical manifestations. The aim of the study was to determine the outcome of severe neuropsychiatric manifestations of chronic hypocalcaemia after correction of calcium levels. Clinical and laboratory data of 22 patients seen between 1999 and 2009 were retrospectively analysed. Calcium, magnesium, phosphorus, albumin and parathormone values were measured in all cases. All patients except infants under one year of age had computed tomography (CT) scans of the head. Most patients (n = 19; 86%) presented with generalised tonic clonic convulsions while three had seizures with psychiatric manifestations. Movement disorders were present in 4 patients and one had candida meningitis. Nineteen of the 22 patients had primary hypoparathyroidism of which one had associated mucocutaneous candidiasis. One had pseudohypoparathyroidism and two had vitamin D deficiency. All patients improved with calcitriol and calcium treatment. Twelve of the 14 patients with convulsions could be taken off anticonvulsants. Hemiballismus disappeared in one patient and choreiform movements disappeared in one patient and dystonia in two patients. Psychiatric manifestations improved but did not disappear in the three patients who had them. Adult patients with seizures or neuropsychiatric manifestations should have calcium levels checked. Seizure disorders due to chronic hypocalcaemia had excellent prognosis on correction of serum calcium levels. Movement disorders improved markedly. Psychiatric manifestations did not improve substantially on correction of serum calcium levels.
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PMID:Neuropsychiatric manifestations and their outcomes in chronic hypocalcaemia. 2459 58

Hypoparathyroidism leading to status dystonicus is rarely reported in literature. The authors present an 8-y-old girl with idiopathic familial hypoparathyroidism who presented with status dystonicus. She was managed successfully with midazolam infusion, calcium and vitamin D supplementation, and oral anti-dystonia drugs.
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PMID:Status Dystonicus in a Child with Familial Idiopathic Hypoparathyroidism. 2816 Jan 54