Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
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PMID:Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. 243 38

The trigger mechanism of autoimmunity in myasthenia gravis (MG) has yet to be elucidated. To determine the function of the thymus in the pathogenesis of MG, we tried to produce chronic experimental autoimmune myasthenia gravis (EAMG) using nicotinic acetylcholine receptor-like protein (n-AChR-LP) isolated from the fetal calf thymus (FCT) by affinity chromatography with Sepharose-4B bound cobrotoxin. Lewis rats were inoculated with n-AChR-LP emulsified in Freund's complete adjuvant and later received two booster immunizations. The immunized rats developed generalized hypotonia at seven to ten days and then recovered spontaneously within two weeks. In the fourth week, flaccid paresis with either a hunched posture or waddling gait appeared in half of the rats, these symptoms improved transiently after treatment with neostigmine. At this time, evoked EMG showed decremental responses after curare sensitization, while anti-n-AChR-LP antibody, measured by enzyme-linked immunosorbent assay (ELISA), increased significantly. These findings therefore suggest that the n-AChR-LP from the thymus includes antigens to induce EAMG.
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PMID:Experimental autoimmune myasthenia gravis induced by thymic acetylcholine receptor-like protein. 820 Jun 9

We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
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PMID:A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. 1075 Oct 85