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)

Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder. The arising of a congenital myotonic dystrophy of one of the new-born children of the maternity hospital enabled to diagnose the Steinert's disease of his mother. A review of the international literature enabled us to recall its interactions with pregnancy. There is an aggravation of myotonia and multiple obstetric complications such as miscarriage, premature onset of labor, polyhydramnios, stillbirth, difficulties during the evacuation, atonic postpartum hemorrhage, anesthetic-accidents. The congenital variant of myotonic dystrophy (6 to 30% of the cases) is a severe disease with a high mortality. It is only seen in the offspring of mothers who themselves have myotonic dystrophy. The myotonic dystrophy gene has been isolated and the mutation-causing myotonic dystrophy was found to result from a series of trinucleotide (CTG) repeats located in the 3' untranslated region of the gene. The direct diagnosis is henceforth possible both on the fetus and parents. Steinert's disease and its association with pregnancy are rare, especially when the affected parent has hypogonadism. The diagnosis of the congenital form is difficult because of the mother is unaware of the disorder. Family and personal history may give hints: hydramnios, appearance delay and reduced fetal movements, and the association at birth of generalized hypotonia with neonatal respiratory distress.
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PMID:[Steinert's disease and pregnancy. A case report and recent literature]. 778 90

Prader-(Labhart-)Willi syndrome (PWS) is characterized by infantile hypotonia, early childhood obesity, mental deficiency, short stature, small hands and feet and hypogonadism. In 70% of the cases this syndrome is associated with a defect of chromosome 15 at 15q11-q13, close to the location of the 7B2 gene (15q13-q14). The majority of the remaining PWS patients display maternal uniparental disomy on chromosome 15. Since the 7B2 gene products are expressed in neuroendocrine cells that are probably affected in PWS, e.g. by a pleiotrophic influence of the neighboring deletion, the presence of 7B2 was studied in the supraoptic and paraventricular nucleus of the hypothalamus of five subjects clinically diagnosed as PWS patients using five antibodies against various parts of the 7B2 precursor polypeptide. Three of the five PWS patients studied showed no reaction to the 7B2 antibody MON-102, whereas all 30 control patients did. However, one of the three MON-102 non-reacting PWS patients reacted to other 7B2 antibodies. In conclusion, the vanishing of 7B2 gene products is not obligatory for PWS, possibly due to the variable genetic background of PWS patients. However, in most patients there is a clear modification of 7B2 expression, pointing to altered neuroendocrine functions.
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PMID:Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients. 782 Jun 29

Animal experiments have shown that the parvocellular oxytocin (OXT) neurons of the hypothalamic paraventricular nucleus (PVN) inhibit food intake. In the present study, the PVN and its OXT neurons have been investigated in an extreme human eating disorder, i.e. the Prader-Willi syndrome (PWS). PWS patients are characterized by gross obesity, insatiable hunger, hypotonia, hypogonadism, and mental retardation. The PVN of 5 PWS patients (2 males and 3 females), varying in age between 22-64 yr, and 27 controls (14 males and 13 females) without any primary neurological or psychiatric diseases was morphometrically investigated after conventional staining with thionine and immunocytochemical staining for OXT and vasopressin (AVP). The thionine-stained volume of the PVN was 28% smaller in PWS patients (P = 0.028), and the total cell number was 38% lower (P = 0.009). The immunoreactivity for OXT and AVP was decreased in PWS patients, although the variability within the groups was high. A strong and highly significant decrease (42%; P = 0.016) was found in the number of OXT-expressing neurons of the PWS patients. The volume of the PVN-containing OXT-expressing neurons decreased by 54% (P = 0.028) in PWS. The number of AVP-expressing neurons in the PVN did not change significantly. The OXT neurons of the PVN seem to be good candidates for playing a physiological role in ingestive behavior as "satiety neurons" in the human hypothalamus.
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PMID:Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. 785 23

Prader-Willi syndrome (PWS) is a disorder characterized by neonatal hypotonia with poor suck, mild to moderate mental retardation, obesity beginning after 3 yr of age, hypogonadism and characteristic facial features. High resolution cytogenetic studies showed a deletion of the proximal chromosome 15q(q11-q13) region in approximately 50%. Interestingly, the same deletion was described in another distinct mental disorder: the Angelman syndrome (AS). This deletion was confirmed by molecular analyses, and a new mechanism was reported: uniparental disomy (maternal in PWS and paternal in AS) strongly implicate genomic imprinting in this chromosomal region. The principal aim of our group is to apply cytogenetic and molecular biology techniques to perform diagnosis and genetic counselling. Patient studies were usually based on high resolution cytogenetic analysis, quantitative Southern blotting (with D15S9, D15S11, D15S10, D15S12 loci) and dinucleotide repeat polymorphism assay by polymerase chain reaction (PCR) (IR4 .3R and GABARB3). The combination of these different methods allowed us to propose a diagnostic strategy for PWS.
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PMID:Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach. 791 May 2

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
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PMID:Hormonal change in an adult with Prader-Willi syndrome: report of a case. 791 75

The Prader-Willi syndrome is characterized by four cardinal symptoms i.e. hypotonia, hypogonadism, mental retardation and extreme obesity. Behavioural and psychological problems are frequent in these patients, mostly related to the withholding of food and the necessity of diet control. A treatment program has been developed for their eating problems. The treatment program is based on three points: 1. The importance of teaching them healthy eating habits within a specific eating culture. 2. The convinction that their obsession and fixation on food can be canalized and satisfied by being occupied, by playing and by learning about food. 3. The opinion that involvement and active participation in their diet is necessary to prevent behavioural problems and to stimulate "self control". The key objective of this program are to control the weight gain and to prevent behavioural problems. Based on these two main objectives, we developed a program based on four principles: a personal low calorie diet, the principles of behaviour modification, stimulation of motor skills and other developmental areas, and parental participation and education. This program is applied in group situation and in individual cases. The results of the present study in 4 children are encouraging. We noted an average weight loss of 2.25 kg, with an average increase of height of 3.5 cm. On intelligence testing we found that the scores on the performal subtests improved while the scores on the verbal subtests decreased. Little change occurred in the behavioural profile.
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PMID:The Prader-Willi syndrome: a self supporting program for children, youngsters and adults. 791 34

Prader-Willi syndrome is rather a rare disease. However, as it includes 4 features (hypogonadism, hypomentia, hypotonia, and obesity), urologist may see the patients with this syndrome for their gonadal problem. We studied all the 27 cases in our hospital of which data were precisely collected. Among males, 67% of patients had presented themselves first to the department of pediatric internal medicine. One third of the patients were not diagnosed as the syndrome and referred to our clinic because of urological abnormalities. Chromosomal abnormality was seen in 40.9%. We found cryptorchism in all the cases and micropenis in 56%. In females, delayed menarche over 15-year-old was seen in 75%. From endocrinological studies, 75% male showed low reaction against HCG stimulation. Low gonadotropin responses to LH-RH were seen in 80% of all patients. We performed orohiopexy for cryptorchism, but testicular development was poor. And we do not actively utilize hormonal therapies for these patients.
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PMID:[Urological problems in Prader-Willi syndrome]. 793 54

We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary ataxias of unknown etiology is difficult because of the heterogeneity of these diseases. The clinical course of IOSCA is homogeneous. Ataxia, muscle hypotonia, athetosis, and loss of deep tendon reflexes in the legs appeared around the age of 1 year. Ophthalmoplegia and deafness were found by school-age, and sensory axonal neuropathy and optic atrophy by adolescence. An acute crisis with epilepsy was a late manifestation. The female patients had hypogonadism. In order to define the type of hypogonadism and to exclude other endocrine defects we measured serum concentrations of SHBG, DHEAS, prolactine, testosterone/estradiol, FSH and LH in postpubertal patients. ACTH, hCG and GnRH tests were performed to both pre- and postpubertal patients. Growth was analysed, and the brain and pituitary region were examined with magnetic resonance imaging (MRI). The estradiol values were low and FSH and LH values were high in the female patients, which indicates that the hypogonadism was of the hypergonadotropic type. The growth of the female patients was steady without a significant pubertal growth acceleration. The growth and pubertal development of the male patients were normal. The adrenal cortical and thyroidea functions were normal in all patients.
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PMID:Primary hypogonadism in females with infantile onset spinocerebellar ataxia. 855 18

A patient with Prader-Willi syndrome developed bronchospasm during anesthesia. The patient was a 9-year-old boy and was scheduled for orchiopexy. His psychomotor development was delayed, and at 12 months of age he was diagnosed as Prader-Willi syndrome by chromosomal examination. The patient weighed 17 kg, was 111 cm tall, and had no symptom of upper respiratory infection preoperatively. Preoperative examinations were normal except supraventricular extrasystole in electrocardiogram. Following administration of scopolamine 0.15 mg intramuscularly as preanesthetic medication, anesthesia was induced smoothly by slow induction using N2O-O2-sevoflurane. However, right after endotracheal intubation with vecuronium 2 mg, remarkable stridor was noticed. Despite hyperventilation, the patient exhibited hypercapnia, and the diagnosis of bronchospasm was made. Aminophylline and steroid were administered intravenously and halothane was inhaled instead of sevoflurane. The bronchospasm was improved gradually and surgery was finished. Prader-Willi syndrome is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, hypogonadism and obesity. In the perioperative management for a patient with Prader-Willi syndrome, special attention must be paid to the abnormalities in the upper and lower respiratory systems.
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PMID:[Bronchospasm during anesthesia in a patient with Prader-Willi syndrome]. 858 65

Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70 % of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20 %) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed.
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PMID:MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings. 859 94


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