Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

4 unrelated boys suffering from adrenoleucodystrophy (ALD) are reported. All presented with a cerebral degenerative disorder manifested by behaviour change, dementia, progressive visual loss and spasticity. 1 child showed an excess of skin pigmenation but no other clinical features of adrenal insufficiency were present. An ACTH stimulation test indicated adrenal insufficiency in 1 patient. In the 3 patients with a normal response to ACTH stimulation, 2 had elevated resting plasma ACTH levels, and the other showed typical inclusins in the cells of the adrenal cortex when examined by electron microscopy. Nuclear brain scans were abnormal in all 4 patients. 3 patients had a CAT scan and in all a diffuse decrease in density was shown throughout the cenebral white matter. 2 patients had a zone of contrast enhancement adjacent to the low density areas. In boys under the age of 10 years ALD is the commonest cerebral degenerative disease after subacute sclerosing panencephalitis.
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PMID:Adrenoleucodystrophy: a study of four patients. 57 90

The routine therapy of multiple sclerosis (MS) in world-wide use today is comprised of four measures: Antiinflammatory and antiedematous treatment with ACTH or Synacthen, respectively, and corticosteroids: only during acute episodes. - High dosage, short duration, no long-term therapy. Immunosuppression with azathioprine (Imurek): Due to the relatively high risk only to use in malignant courses (frequent and severe bouts). Basic therapy with unsaturated fatty acids (sunflower oil, Naudicelle). Influencing circumscribed target symptoms (spasticity, micturition difficulties, constipation, etc.). In addition, physiotherapeutic, psychagogic and, if necessary, nursing and social measures are included. More than a decade's experience with ultrasound therapy of the lymphatic ring as developed by Selzer in over 300 MS-patients gives the impression of a reduction in bout frequency and severity. A statistical evaluation of therapeutic efficiency has so far been impossible for well-known disease-specific reasons, which hold true for all MS-treatment methods. Great practical importance within a foreseeable space of time may be reached by efforts to influence disturbance in nerve conduction and synaptic transmission as specifically caused by the demyelination process. The successful medicinal deceleration of sodium inactivation, inhibition of potassium activation and extension of the action potential, as well as specifically influencing the neurotransmitters responsible for the disturbed synaptic transmission could lead to a total recovery or improvement of dysfunction in a great many cases. Such a "global symptomatic therapy" might indeed not change the course of disease, but bring about great progress to the patient.
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PMID:[Therapy of multiple sclerosis]. 298 2

X-linked adrenomyeloneuropathy (AMN) is a phenotypic variant of adrenoleukodystrophy (ADL) presenting in early adult life with progressive ataxia and spasticity, and on occasion with adrenal insufficiency. We describe a 26-year-old Chinese man with a 2-year history of gait difficulty due to spasticity, absent pattern shift visual evoked (VER) responses and posterior white matter lesions on T2 weighted brain magnetic resonance images. His parents are clinically normal and his 24-year-old brother has hyperreflexia in the legs but normal VER latencies. The patient's ACTH levels were elevated and the serum cortisol did not rise with either Synacthen or corticotropin releasing hormone. Assay of his plasma confirmed elevation of very long chain fatty acids (VLCFA) consistent with a defect in peroxisomal VLCFA metabolism. This is the first local report of a patient with AMN.
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PMID:An index case of adrenomyeloneuropathy in a Chinese man. 776 96