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)

Phosphorus-31 magnetic resonance (MR) spectra of leg muscles in patients with the neuromuscular diseases Duchenne dystrophy, myotonic dystrophy, postpoliomyelitis, Werdnig-Hoffmann disease, and pedal dystonia were recorded. Ratios of beta-adenosine triphosphate (ATP), inorganic phosphate (Pi), alpha-glycerophosphorylcholine (GPC), and phosphomonoesters to phosphocreatine (PCr) were calculated from peak integrals and compared with normal muscle ratios. In all diseases studied, beta-ATP/PCr and Pi/PCr values showed an increase from normal values. The extent of increase in beta-ATP/PCr was related to the clinical severity of the disease, suggesting that this could be a useful noninvasive means of monitoring effectiveness of therapy for neuromuscular disorders. In myotonic dystrophy and Werdnig-Hoffmann disease, GPC/PCr values increased greatly. The intracellular pH in Duchenne and postpoliomyelitis muscles was slightly elevated compared with that in normal muscles. Hydrogen-1 MR images of muscles showed fat infiltration in all patients, more in weaker muscles and less in stronger muscles.
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PMID:Human leg neuromuscular diseases: P-31 MR spectroscopy. 274 32

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