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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination and corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined growth hormone and gonadotropin deficiencies, hypothalamic pituitary in origin, have been demonstrated by neuroendocrine studies. We believe that the multiple neuroendocrine disorder may be the consequence of the abnormalities of common neuronal pathways regulating growth hormone and gonadotropin synthesis or secretion related to the brain storage of free sialic acid and/or to the neurodegenerative process occurring in Salla disease. Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful.
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PMID:Multiple neuroendocrine disorder in Salla disease. 1166 56

Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by the absence or abnormal inactivation of a critical region of the paternal chromosome 15. Clinical manifestations include marked hypotonia at birth, progressive obesity that starts during the second year of life, stunting, hypogonadism and some dysmorphic features. Some of the symptoms and signs can be explained by growth hormone (GH) deficiency. We report two females aged 12 and 13 years old with PWS. Both were very short and obese, showed blunted GH responses to provocative stimuli and had low plasma levels of Insulin Growth Factor-1 (IGF-1). They have been on GH treatment for more than two years, demonstrating a marked growth acceleration, reduction in their fat mass, improvement of their muscular strength and an increase in their IGF-1 levels.
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PMID:[Prader-Willi syndrome. Treatment with growth hormone in 2 cases]. 1177 47

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

Prader Willi syndrome (PWS) is a rare endocrine-metabolic disorder that is characterised by neonatal hypotonia, hyperphagia, marked obesity, short stature, hypogonadism and behavioural problems. 7-20% percent of these children develop diabetes mellitus. A large number of individuals with PWS show growth hormone (GH) deficiency. Recent studies indicate beneficial effects of GH replacement therapy not only for their linear growth but also for correction of metabolic dysfunction. In the present communication this article details about the therapeutic outcome in a girl with PWS who received recombinant growth hormone (rGH), Genotropin. Some carry-over therapeutic benefits have been observed even after discontinuation of rGH.
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PMID:Growth hormone treatment in a girl with Prader Willi syndrome. 1279 14

Prader-Willi syndrome (PWS) is a genetic disorder characterized by mild mental retardation, short stature, abnormal body composition, muscular hypotonia and distinctive behavioural features. Excessive eating causes progressive obesity with increased cardiovascular morbidity and mortality. In the PWS genotype loss of one or more normally active paternal genes in region q11-13 on chromosome 15 is seen. It is supposed that the genetic alteration leads to dysfunction of several hypothalamic centres and growth hormone (GH) deficiency (GHD) is common. PWS is well described in children, in whom GH treatment improves body composition, linear growth, physical strength and agility. Few studies have focused on adults. We examined a cohort of 19 young adults with clinical PWS (13 with positive genotype) and mean BMI of 35 kg/m2. At baseline the activity of the GH-insulin-like growth factor-I (IGF-I) system was impaired with low GH values, low total IGF-I and in relation to the obesity low levels of free IGF-I and non-suppressed IGF-binding-protein-1 (IGFBP-1). 2/3 were hypogonadal. Bone mineral density (BMD) was low. Four patients had impaired glucose tolerance and nine patients high homeostasis model assessment (HOMA) index, indicating insulin resistance. Seven patients had a moderate dyslipidemia. The 13 patients with the PWS genotype were shorter and had significantly lower IGF-I. Seventeen (9 men and 8 women), subsequently completed a 12 months GH treatment trial, and GH had beneficial effects on body composition without significant adverse effects. The effects were more pronounced in the patients with the PWS genotype. Analysis of peptides involved in appetite regulation showed that leptin levels were high reflecting obesity and as a consequence NPY levels were low. In relation to the patients obesity circulating oxytocin levels were abnormally low and ghrelin levels abnormally high. Thus, oxytocin and ghrelin might be involved in the hyperphagia. NPY, leptin and ghrelin did not change during GH treatment. In conclusion this pilot study showed that adults with PWS have a partial GH deficiency, and GH treatment has beneficial effects on body composition in adult PWS without significant side-effects. Larger and longer term studies on the effect of GH replacement in adult PWS are encouraged.
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PMID:Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. 1470 May 52

Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most cases were not completely documented and autopsy was performed in a minority of cases only. In five cases, death was considered not to be causally related to PWS. Hypotonia with hypoventilation was noted in the babies, and acute respiratory illness with unexpected sudden death was experienced in young children with PWS. Two young children died after a short period of fever and gastroenteritis. Obesity and its complications leading to death were pronounced in the adult group. One (possibly two) adult(s) died from gastric dilatation and shock. Based on these data, some cautious conclusions can be drawn. In babies with PWS hypoventilation is a risk factor; upper airway infection may be more serious than anticipated and any other clinical features pointing to an infection should be taken very seriously. Therefore, young infants with PWS hospitalized with an upper airway infection and/or hypoventilation or gastroenteritis symptoms, should be closely monitored. Early diagnosis and prevention of overweight is a major factor in preventing early causes of death in individuals with PWS. In the adult group, weight reduction is important but difficult to manage. Sleep apnea should be recognized and treated. Pain in the upper stomach and/or vomiting should be taken as a possible sign of acute intestinal dilatation; intravenous support may be life saving.
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PMID:Prader-Willi syndrome: causes of death in an international series of 27 cases. 1473 79

Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, an insatiable appetite resulting in progressive obesity, hypotonia, and hypogonadism. Many of these symptoms suggest a hypothalamic dysfunction. In fact, reduced growth hormone (GH) secretion and low insulin-like growth factor (IGF- I) are shown in PWS resembling the GH deficient state. The GH treatment of patients with PWS are effective on growth and body composition with decreasing in body fat mass and increasing in body muscle mass, resulting in improvement of respiratory function and bone mineral density. The important advance effects reported during GH treatment of patients with PWS are diabetes mellitus and respiratory dysfunction was recently reported. It is very important that GH should be used with another treatment such as diet therapy, and with only this way GH can play an important role among the overall treatments of PWS.
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PMID:[GH therapy in Prader-Willi syndrome]. 1577 50

This paper will suggest that the Down syndrome phenotype would have been well suited, physiologically, for a deprived environment and that it may represent a predictive, adaptive response to severe maternal deprivation. A trisomy of the 21st chromosome, prior to, or at conception is responsible for Down syndrome and is known to increase in incidence with advanced maternal age. One out of 11 mothers over the age of 50 conceives a Down syndrome baby, compared to one in one thousand at age 30. This article emphasizes that an older mother is more likely to die before she is able to provide the parental investment necessary to produce an ecologically self-sufficient offspring. Prolonged maternal investment is known to be essential for hunter-gatherers to master the skill intensive food procurement techniques that they will need in order to become independent of their mothers. Because Down syndrome individuals are much more likely to be born to older mothers, they must have been routinely deprived of maternal investment in the human environment of evolutionary adaptedness. This consistent paring of maternal deprivation to trisomy 21 conceptions, over time, may have caused natural selection to favor genes responsible for the energy conserving traits seen in modern day Down syndrome. These traits include muscle hypotonia, decreased cerebral metabolism, decreased hippocampal volume, a strong propensity for obesity and growth hormone and thyroid hormone paucity. Such a "thrifty phenotype" may have allowed Down syndrome individuals to become independent of their mothers at a far earlier age and allowed them to forgo the skill intensive ecological niche that non-trisomic humans are phenotypically suited for in order to take up a less cognitively and physically rigorous one.
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PMID:Evolutionary neuropathology and Down syndrome: an analysis of the etiological and phenotypical characteristics of Down syndrome suggests that it may represent an adaptive response to severe maternal deprivation. 1673 81

Prader-Willi syndrome is a neurogenetic disorder that occurs due to the lack of a paternally expressed gene or genes on chromosome 15q11-q13. Many of the symptoms present in Prader-Willi syndrome are due to a hypothalamic-pituitary dysfunction. The main characteristics are muscular hypotonia, delayed psychomotor development, insatiable appetite resulting in overweight if a diet is not maintained, compromised growth and puberty resulting in a short final height and incomplete sexual development, respiratory disturbances, and dysmorphic features. Individuals with Prader-Willi syndrome have compromised growth and abnormal body composition with increased fat mass, decreased lean body mass, and low bone density, resembling a growth hormone-deficient status. Somatropin treatment has a beneficial effect on growth with increased final height and an improvement in and maintenance of body composition, as well as a beneficial effect on respiratory functions. Before initiating somatropin therapy, weight should be kept at an appropriate level, and polysomnography, as well as an otorhinolaryngologic examination should be performed. During somatropin therapy, carbohydrate metabolism and the development of scoliosis should be monitored, as well as bodyweight.A comprehensive team to manage the various components of medical, psychologic, and sociologic care is required for individuals with Prader-Willi syndrome.
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PMID:Somatropin therapy for children with prader-willi syndrome : guidelines for use. 1687 1


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