Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Serum insulin, blood sugar, and growth hormone levels were measured in response to a 50g oral glucose tolerance test in 10 patients with proven dystrophia myotonica. Three patients belonged to one family; seven patients had no known family history of the disease. One patient, a chronic invalid aged 56 years, produced a mild diabetic glucose tolerance curve and a delayed prolonged rise in serum insulin. Six of the group, including the three affected members from one family, exhibited normal glucose tolerance and fasting serum insulin values, but a markedly exaggerated rise in peripheral insulin levels maximal at 30 and 60 min. This abnormality showed no correlation with age of onset of the disease nor with severity of the muscle weakness. Growth hormone levels were normal in all of the patients studied. It is concluded that an excessive rise in circulating immunoreactive insulin in response to glucose is a common abnormality in dystrophia myotonica and reflects genetic heterogeneity in this condition. Futhermore, if the index patient in a family demostrates this abnormality, it is suggested that the 30- or 60-min blood insulin level during a glucose tolerance test is a useful methold of intra-family screen-ing for asymptomatic heterozygotes at an early stage before the development of physical defects.
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PMID:Carbohydrate metabolism in dystrophia myotonica. 114 79

Seventeen consecutive acromegalic patients were evaluated for evidence of neuromuscular dysfunction and followed for 1 year after hypophysectomy. Before treatment, four patients had both a myopathy and the carpal tunnel syndrome, five had myopathy alone, four had carpal tunnel syndrome alone, and four had neither. The myopathy was caracterized by mild, strictly promixal weakness and flabbiness of muscles; electromyography revealed typical myopathic abnormalities, but serum enzymes and muscle biopsy usually were normal. The presence of myopathy or the carpal tunnel syndrrome could not be correlated with the magnitude of growth hormone elevation or any secondary endocrine derangement, but myopathy was associated with a longer duration of acromegaly. Carpal tunnel symptoms usually improved in the first 6 weeks after hypophysectomy, while myopathy improved more slowly and sometimes was detectable 1 year later.
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PMID:Neuromuscular complications of acromegaly. 117 95

Children with Down Syndrome have marked short stature, microcephaly, and muscle weakness. These deficiencies can be corrected by treatment with human growth hormone. Nurses caring for children with Down Syndrome will need to become familiar with the complexities of diagnosing growth hormone deficiency and treatment with synthetic growth hormone. Family teaching includes preparation for diagnostic testing, home assessment, injection technique, provision of information, and ongoing support of the family system.
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PMID:Helping Down Syndrome children to reach new heights: the role of the pediatric nurse. 851 Oct 8

A case of the Sotos syndrome associated with peripheral nerve involvements was reported. A 52-year-old male was admitted to Kawasaki Medical School Hospital because of gait disturbance, muscle atrophy, and weakness in both hands. This case was diagnosed as the Sotos syndrome based on the following symptoms and findings, acromegaloid features, hypertrophic changes in the hands and feet, a history of epileptic episodes, a low IQ, a normal growth hormone value, and no tumor lesion in the pituitary gland. Radiological examination disclosed a cauliflower-like appearance of the finger tips and thickness of the heel pads. Brain CT and MRI revealed diffuse mild brain atrophy. An electroencephalogram showed diffuse theta waves with sharp waves in the right parietal region. A needle electromyogram revealed neurogenic change in both upper and lower limbs. A nerve conduction study disclosed the carpal tunnel syndrome and cubital tunnel syndrome. These findings suggest that, as in the case of acromegaly, entrapment neuropathy and peripheral neuropathy can also be induced in the Sotos syndrome.
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PMID:[A case of Sotos syndrome associated with peripheral nerve involvements]. 132 Oct 17

Linkage studies were performed in six European families with hyperkalaemic periodic paralysis (PPII) with myotonia, an autosomal dominantly inherited disorder characterised by episodic weakness. The weakness is caused by non-inactivating sodium channels of reduced single channel conductance of the muscle fibre membrane. Recently, portions of the gene coding for the alpha subunit of the sodium channel of the adult human skeletal muscle (h-Na2) have been cloned and localised on chromosome 17q with no recombinants to the human growth hormone locus (GH1). Linkage between these two chromosome 17 markers and the disease was shown in our families (Z = 7.14, 0 = 0.00). These results, combined with the linkage data of a single large American family, suggest that the disease is caused by dominant mutations of the adult sodium channel, and that it is probably a genetically homogeneous disorder. Hyperkalaemic periodic paralysis is the first non-progressive myotonic disorder to be localised on the human genome.
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PMID:Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. 168 8

Hypoglycaemia is possibly the most frequent metabolic emergency, in that insulin-induced hypoglycaemia is a common side-effect of treatment of a common disease. The symptoms are partly sympathetic and related to the release of catecholamines. These symptoms include sweating, tremor, palpitations, sensation of hunger, restlessness and anxiety. Other symptoms are caused by an insufficient supply of glucose to the brain, resulting in neuroglucopenia with symptoms like blurred vision, weakness, slurred speech, vertigo and difficulties in concentration. Symptom recognition is the primary and most effective defence against cerebral dysfunction which is the ultimate consequence of hypoglycaemia. Even in insulin-treated diabetic patients symptom failure might occur. Patients who experience severe episodes of hypoglycaemia do not constitute a special subgroup of patients. However, near-normalization of blood glucose levels have resulted in an increase in the incidence of severe hypoglycaemia. Moreover, the threshold for hormonal counter-regulatory responses in adrenaline, growth hormone and cortisol is lowered after a period of strict metabolic control in insulin-dependent diabetic patients. The glucose level at which the patients become subjectively aware of hypoglycaemia is correspondingly reduced. Other reasons for hypoglycaemia to occur are oral hypoglycaemic agents, especially sulfonylureas which may be potentiated by other drugs. Prolonged hypoglycaemia may be seen after first-order sulfonylureas, and may indicate glucose infusion as treatment. Next to insulin and sulfonylurea, ethanol is the most common cause of hypoglycaemia. In non-diabetics, hypoglycaemia will typically develop 6-24 h after a moderate or heavy intake of ethanol by a person who has had an insufficient intake of food for 1 or 2 days. Insulin-producing tumours, insulinomas and non-islet cell tumours may also be reasons for hypoglycaemia in non-diabetics. Treatment of mild episodes of hypoglycaemia is intake of fast-absorbing carbohydrates. Severe episodes can be treated with either i.v. dextrose or glucagon injected i.m. or i.v. The glycaemic response and recovery of a normal level of consciousness is 1-2 min slower after glucagon than after glucose.
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PMID:Endocrine emergencies. Hypoglycaemia. 173 95

In a retrospective study of 632 patients with pituitary disease we diagnosed pituitary insufficiency without hypersecretion of any pituitary hormone in 122 patients. Patients were substituted with sex hormones (76%), hydrocortisone (74%) and/or L-thyroxine (77%). 76% had additional growth hormone deficiency, as shown by an increase of growth hormone of less than 5 ng/ml after i.v. administration of L-arginine. In 17% of all patients the diagnosis of osteoporosis was proven or suspected radiologically. 57% had low bone mass of lumbar spine (dualphotonabsorptiometry) and 73% had low bone mass of the proximal forearm (singlephotonabsorptiometry). BMD values of pituitary insufficient patients were in the same range as those of patients with established osteoporosis. More than half of all patients (53%) complained of tiredness, exhaustion and muscle weakness. 40% suffered from adipositas. 77% had hyperlipidemia (68% hypertriglyceridemia and 42% hypercholesterinemia), 18% had hypertension. 14% of the patients had arteriosclerotic events in their history (myocardial infarction or stroke). These figures are higher than incidences shown in the German PROCAM-study. These data show an increased prevalence of osteoporosis and vascular diseases. This is in contrast to the general opinion, that patients with pituitary insufficiency are adequately treated by substitution with adrenal, thyroid and sex hormones. Whether other factors such as the additional growth hormone deficiency are responsible for these diseases has to be examined in prospective studies.
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PMID:[Increased prevalence of osteoporosis and arteriosclerosis in conventionally substituted anterior pituitary insufficiency: need for additional growth hormone substitution?]. 176 81

An 11-year-old girl being treated with DNA-recombinant growth hormone therapy presented with proximal limb weakness. Laboratory studies were negative. A few months later she presented with acute lymphoblastic leukemia (ALL). A diagnosis of carcinomatous neuromyopathy was made. After successful treatment of the leukemia the symptoms subsided and did not recur.
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PMID:A girl treated with growth hormone presenting with neuromyopathy as first sign of acute lymphoblastic leukemia. 209 12

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation.
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PMID:Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. 217 43

There is evidence that growth hormone may be related to the progression of weakness in Duchenne dystrophy. We conducted a 12-month controlled trial of mazindol, a putative growth hormone secretion inhibitor, in 83 boys with Duchenne dystrophy. Muscle strength, contractures, functional ability and pulmonary function were tested at baseline, and 6 and 12 months after treatment with mazindol (3 mg/d) or placebo. The study was designed to have a power of greater than 0.90 to detect a slowing to 25% of the expected rate of progression of weakness at P less than 0.05. Mazindol did not benefit strength at any point in the study. Side effects attributable to mazindol included decreased appetite (36%), dry mouth (10%), behavioral change (22%), and gastrointestinal symptoms (18%); mazindol dosage was reduced in 43% of patients. The effect of mazindol on GH secretion was estimated indirectly by comparing the postabsorptive IGF-I levels obtained following 3, 6, 9, and 12 months in the mazindol treated to those in the placebo groups. Although mazindol-treated patients gained less weight and height than placebo-treated patients, no significant effect on IGF-I levels was observed. Mazindol doses not slow the progression of weakness in Duchenne dystrophy.
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PMID:Randomized, double-blind trial of mazindol in Duchenne dystrophy. 226 90


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