Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alternating hemiplegia of childhood is an uncommon disease characterized by repeated, transient attacks of hemiplegia. Its pathophysiology is uncertain, but attention recently has focused on possible mitochondrial abnormalities. Using 31P magnetic resonance spectroscopy, we studied gastrocnemius muscle in 5 patients with alternating hemiplegia, aged 8 to 30 (mean, 18) years, at rest and during incremental aerobic exercise and recovery. There were no significant differences in resting muscle between patients and a control group aged 7 to 42 (mean, 19) years. Exercise performance was grossly impaired in the patients, the mean duration being 30% of normal. The total change in pH during exercise was somewhat less than in control subjects, while the changes in phosphocreatine concentration and intracellular ADP were similar. Thus the average overall rate of fall of phosphocreatine concentration during exercise was three-fold greater than in control subjects. However, the initial rate of ATP turnover at the start of exercise (a measure of muscle mass and efficiency) was not abnormal. During recovery, both the initial rate of phosphocreatine resynthesis and the calculated mitochondrial capacity were reduced by about 35%. This mitochondrial defect probably explains most of the abnormalities seen during exercise.
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PMID:Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood. 757 69

Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
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PMID:Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. 849 40

We examined a patient with alternating hemiplegia of childhood (AHC) who had over a 23-year history of AHC to investigate the origin of the neurological deterioration with increasing age. Hemiplegic attacks had occurred consistently at a frequency of a few per week since infancy, and he first experienced attacks of cerebellar ataxia at the age of 23 years. Intellectual impairment, dysarthria, dystonic posturing, and a wide-based gait had been slowly progressive, but they had been stable since he turned twenty. The electromyographic response to transcranial magnetic stimulation was normal between attacks and showed reversible alteration during an attack. MRI revealed slight dilatation of the lateral ventricles, and MR angiography showed normal cerebral blood flow. Proton MR spectroscopy between attacks showed normal peak area ratios for N-acetyl groups, choline-containing compounds, and creatine and phosphocreatine, and it also demonstrated no lactic peak. 123I-IMP SPECT between attacks demonstrated diffuse cerebral hypoperfusion despite no evidence of ischemic change in the above MR study. These results suggest that the slowly progressive neurological deficits are due to the primary underlying pathology rather than the secondary neuronal loss as a result of frequent ischemic attacks.
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PMID:Alternating hemiplegia of childhood: report of a case having a long history. 913 95

BACKGROUND New evidence reveals significant metabolic changes in skeletal muscle after stroke. However, it is unknown if 31P magnetic resonance spectroscopy (31P-MRS) can evaluate these metabolic changes. Our objective here was to investigate: (a) if muscle energy metabolism changes in the affected side; (b) if muscle energy metabolism changes after rehabilitation; and (c) if energy metabolism measured by 31P-MRS can reflect changes in the Modified Modified Ashworth Scale (MMAS) and Fugl-Meyer assessment-lower extremity (FMA-LE) scores after rehabilitation. MATERIAL AND METHODS We enrolled 13 patients with stroke symptoms and hemiplegia. Lower-limb motor status on the affected side was evaluated by FMA-LE and MMAS. The 31P-MRS measures included phosphocreatine (PCr), inorganic phosphate (Pi), PCr/Pi, and pH. We statistically compared these measures in the affected and unaffected lower leg muscles before rehabilitation and after rehabilitation on the affected side. Spearman correlational analyses was performed to determine correlations between change in energy metabolism and change in FMA-LE score and MMAS score after rehabilitation. RESULTS PCr and PCr/Pi were significantly lower in the affected muscle compared to the unaffected muscle; however, there were no significant differences in Pi or pH. After rehabilitation, PCr, Pi, PCr/Pi, and pH did not significantly change. However, FMA-LE and MMAS score improved significantly after rehabilitation. Changes in energy metabolism measured by 31P-MRS had no correlation with FMA-LE change after rehabilitation. However, changes in PCr and PCr/Pi were correlated with change in MMAS score after rehabilitation. CONCLUSIONS 31P-MRS can evaluate changes in muscle energy metabolism in patients with stroke. PCr measured by 31P-MRS can reflect changes in MMAS after rehabilitation.
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PMID:Investigating Muscle Function After Stroke Rehabilitation with 31P-MRS: A Preliminary Study. 2973 Jun 67