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)

We report a case of HAM/TSP presenting with short stature, mental retardation, skin eruptions, uterine and ovarian hypogenesis and nephropathy. Skin erythema was noted since from the age of three years old and spasticity of lower extremities from elementary school age. Serum calcium level showed 4.1 mEq/l. Recombinant human PTH infusion resulted in no response of phosphate excretion. The persistent proteinuria prompted renal needle biopsy, which revealed IgA and C1q deposits in glomerular mesangium. A diagnosis of pseudohypoparathyroidism and IgA nephropathy was entertained. This patient with pseudohypoparathyroidism who has a deficient immune system was seized with the early onset of HAM/TSP and IgA nephropathy.
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PMID:A case of HTLV-I-associated myelopathy with IgA nephropathy and pseudohypoparathyroidism type 1. 179 21

Oculodento-osseous dysplasia (ODOD) is a rare genetic disorder characterized by microphthalmia, hypoplasia of the dental enamel, dysplastic and sclerotic changes in the skeleton and various digital malformations. The occurrence of basal ganglion calcification in this condition is of considerable interest, particularly as it has some biochemical features in common with hypoparathyroidism and pseudohypoparathyroidism. The 2 patients presented in this article did not show any features of an extrapyramidal disorder, but both experienced progressive spasticity in the limbs. The neurological disturbance was not due to compression of the neuraxis by bony overgrowth, but to an associated neurological lesion of undetermined nature. The biochemical abnormalities are discussed but as yet no explanation for the association between intracranial calcification and ODOD can be offered.
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PMID:Intracranial calcification in oculodento-osseous dysplasia. 626 36

Heterotopic ossification is defined as the presence of lamellar bone at locations where bone normally does not exist. The condition must be distinguished from metastatic calcifications, which mainly occur in hypercalcaemia, and dystrophic calcifications in tumours. It is a frequent complication following central nervous system disorders (brain injuries, tumours, encephalitis, spinal cord lesions), multiple injuries, hip surgery and burns. In addition to this acquired form, hereditary causes also exist, such as fibrodysplasia ossificans progressiva, progressive osseous heteroplasia and Albright's hereditary osteodystrophy. Although these conditions are extremely rare, they can provide useful information on the physiopathology of heterotopic ossification, and thus lead to novel and causal treatment modalities. Heterotopic ossification is no trivial complication. A limitation of the range of joint motion may have serious consequences for the daily functioning of people who are already severely incapacitated because of their original lesion. Increased contractures and spasticity, pressure ulcers and increasing pain further compromise the patient's capabilities. Consequently, we feel that attention should be paid to the pathogenesis and particularly the prevention and treatment of this disorder.
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PMID:Heterotopic ossification: a review. 1604 Apr 68