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)

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.
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PMID:Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. 75 22

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 authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.
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PMID:[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?]. 263 13

A rare form of osteodysplasia could be diagnosed by prenatal sonographic screening. Characteristic for this rare type of dysplasia, described only in 8 cases by Desbuqois and Piussan so far, is a severe dwarfism, generalized muscle hypotonia, mental retardation, asynchronized ossification, osteoporosis and considerable desaxiations of tubular bones and articulations. Radiologically, polydactylia and especially an increase in size of the trochanter minor can be observed. In the case described, this autosomal recessive hereditary disease had already been diagnosed for the first child of this consanguineous couple, which had died at 7 weeks after birth. During the second pregnancy of this patient the malformation could be diagnosed by ultrasound in the 24th week of gestation and the pregnancy was terminated. Autopsy and fetogram showed the malformations typical for this rare dysplasia.
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PMID:[Prenatal sonographic diagnosis of a case of Desbuquois familial osseous dysplasia]. 267 87

Lysinuric protein intolerance (LPI) is an autosomal recessive disease caused by defective transport of the cationic amino acids lysine, arginine, and ornithine at the cell membrane. About 80 patients with LPI have been described worldwide, almost half of them in Finland. The symptoms appear in early childhood as a failure to thrive, growth retardation, muscular hypotonia, and episodes of stupor after protein-rich meals. Twenty-nine Finnish patients (current median age 24.8 years, range 3.7-47.9 years) over a mean follow-up time of 18.1 years (range 1.2-27.2 years) had 57 fractures after minor trauma, mostly in childhood. Their 440 skeletal radiographs showed severe osteoporosis (13/29), controversially abnormal thickening of cortex of the metacarpals (7/29), or thin cortices of the long bones (5/29), endplate impression of vertebrae (8/29), rickets-like metaphyses (2/29), or early destruction of cartilage (3/29). Skeletal maturation was delayed by 1-5 years in 23 of 24 patients. There was no correlation between fracture incidence, radiological bone structure, and delayed skeletal maturation.
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PMID:Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients. 843 Mar 40

The objective of the study was to elucidate if individuals with Down's syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 +/- 4.45 and 23.65 +/- 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 +/- 3.46 and 23.86 +/- 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counter-parts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9%. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary life-style and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21.
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PMID:Bone mineral density in adults with Down's syndrome. 1035 78

Short stature, decreased muscle mass (hypotonia), increased body fat, decreased bone mineral density and other somatic abnormalities are major causes of morbidity and social limitation in individuals with Prader-Willi syndrome. Detailed studies indicate that two major endocrine pathologies may account for many of these somatic abnormalities. A true deficiency of the growth hormone (GH)-insulin-like growth factor axis is a principal cause of the short stature and is probably a major contributor to the decreased muscle mass and osteopenia. Hypogonadotropic hypogonadism is the probable primary cause of osteopenia and osteoporosis. No other endocrine abnormalities have been specifically identified in Prader-Willi syndrome, although there may be increased risks of premature adrenarche and type 2 diabetes mellitus, both secondary to obesity. GH replacement therapy is effective in normalizing linear growth and also has positive effects on muscle mass and function, and on bone mineralization. Judicious gonadal steroid replacement may be effective in treating the osteopenia and preventing osteoporosis. GH and gonadal steroid replacement therapy should be considered for all patients with Prader-Willi syndrome.
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PMID:Effects of growth hormone treatment in children with Prader-Willi syndrome. 1098 58

We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.
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PMID:Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome. 1126 Feb 10

Prader-Willi Syndrome (PWS), first described in 1956, is a unique genetic condition with a prevalence of 1 in 10,000 - 25,000. Features include severe lifelong hypotonia, insatiable appetite, short stature, obsessive-compulsive behaviour, morbid obesity, hypogonadism, kyphosis, scoliosis and osteoporosis. Studies beginning in the 1970s demonstrated that PWS is associated with a deficiency in growth hormone. Growth hormone treatment in children with PWS improves linear growth and more importantly leads to an increased muscle mass, bone mineral density and physical performance. In mid-2000, growth hormone became the first pharmaceutical approved in the US and Europe for the treatment of childhood PWS. It is now considered an essential part of comprehensive care for this condition. Ongoing studies address issues of growth hormone dosage, long-term efficacy, effects on neonatal and childhood growth and development and effects in adults with PWS.
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PMID:Disease management of Prader-Willi syndrome. 1238 91

Polyamines (putrescine, spermidine, spermine) are ubiquitous, simple molecules that interact with a variety of other molecules in the cell, including nucleic acids, phospholipids and proteins. Various studies indicate that polyamines are essential for normal cell growth and differentiation. Furthermore, these molecules, especially spermine, have been shown to modulate ion channel activities of certain cells. Nonetheless, little is known about the specific cellular functions of these compounds, and extensive laboratory investigations have failed to identify a heritable condition in humans in which polyamine synthesis is perturbed. We report the first polyamine deficiency syndrome caused by a defect in spermine synthase (SMS). The defect results from a splice mutation, and is associated with the Snyder-Robinson syndrome (SRS, OMIM_309583), an X-linked mental retardation disorder. The affected males have mild-to-moderate mental retardation (MR), hypotonia, cerebellar circuitry dysfunction, facial asymmetry, thin habitus, osteoporosis, kyphoscoliosis, decreased activity of SMS, correspondingly low levels of intracellular spermine in lymphocytes and fibroblasts, and elevated spermidine/spermine ratios. The clinical features observed in SRS are consistent with cerebellar dysfunction and a defective functioning of red nucleus neurons, which, at least in rats, contain high levels of spermine. Additionally, the presence of MR reflects a role for spermine in cognitive function, possibly by spermine's ability to function as an 'intrinsic gateway' molecule for inward rectifier K(+) channels.
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PMID:X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 1450 4


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