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)

Myoglobinuria was found in an 11 month old girl suffering from fever, dyspnoea, and muscle hypotonia. Muscle biopsy showed focal degenerative necrosis of the muscle fibres. Electronmicroscopically, picornavirus-like crystals were demonstrated in the muscle fibres. These and other findings strongly suggest that she suffered from acute myositis with myoglobinuria probably caused by Coxsackie B6 virus infection. The causal relationship of viral infection (Coxsackie, influenza, or myxo-viruses) and acute or chronic polymyositis with or without myoglobinuria is discussed.
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PMID:Acute fulminant myoglobinuric polymyositis with picornavirus-like crystals. 92 98

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
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PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

The value of vasodilatatory treatment of pulmonary hypertension due to chronic obturative pulmonary disease (c.o.p.d.) is still controversial. However in patients with c.o.p.d. causal treatment as well as chronic domestic oxygen therapy have a wide range of limitations. Among vasodilator alpha-1 blockers show less vasodilator-related adverse effects, and as known from acute trials they exert a potent effect on pulmonary circulation in patients with pulmonary hypertension and c.o.p.d. Prazosin was studied in 11 patients (10 men, 1 women) aged 63 +/- 7 years with advanced c.o.p.d. (FVC 1.8 +/- 0.41, FEV1 0.99 +/- 0.55 l) (s) after their clinical stabilisation. In 4 of them prazosin was added to the maintenance dose of diuretics and digitalis. Subjective status, NYHA functional class, spirometric (FVC, FEV1) and gaseous (PaO2, PCO2) parameters, weight, systemic blood pressure, and heart rate were noted. During Swan-Ganz catheterization mean pulmonary artery pressure (MPAP), right ventricular end-diastolic pressure (RVEDP), pulmonary wedge pressure (PCWP), cardiac output (CO), systemic (SVR) and pulmonary (PVR) vascular resistance were measured. The acute trial with 1 mg prazosin taken orally was followed by 2- and 6-week of 3 mg prazosin treatment assessment. After a single dose of 1 mg prazosin there was a significant decrease in MPAP from 36 +/- 9 to 28 +/- 10 (p = 0.001) and 44% decrease in RVEDP (p = 0.05). CO increased by 16% (p = 0.01). The fall in PVR (30%, p = 0.01) exceeded that in SVR (17%, NS). No adverse effects were observed. During 2-week 3 mg a day prazosin therapy 2 patients were excluded following dyspnea and systemic hypotonia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical and hemodynamic evaluation of 6-week treatment of pulmonary hypertension in chronic obstructive lung diseases (COLD) with low dose of prazosin]. 208 1

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
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PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

We examined a 14-month-old boy with severe muscular hypotonia and weakness. Loss of tendon reflexes were noted at age 2 months. Right-sided heart failure and dyspnea during sleep developed at age 4 months. Muscle biopsy revealed selective hypoplasia of type II fibers and normal type I fibers. Intercostal and diaphragmatic muscles showed similar changes at necropsy and probably accented the respiratory failure.
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PMID:Congenital myopathy with type II muscle fiber hypoplasia. 234 10

Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% "dermatitis acidemica" was found.
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PMID:Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. 795 90

A 3-year-old girl with Down syndrome was admitted to our hospital, associated with hypotonia and dyspnea. She presented frog-posture and shallow breathing. The blood gas analysis revealed hypercapnic acidosis with pH 7.371, PO2 74.6 mmHg, PCO2 52.6 mmHg, and BE 3.5. The cervical X-ray films with flexion and extension of head showed anterior dislocation of the atlanto-axial articulation. Magnetic resonance imaging clearly showed a severe cord compression between C1 and C2. In children, spinal cord compression induced by dislocation of the atlanto-axial articulation is very rare. However, we should take into consideration of this insidious risk associated often with Down syndrome.
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PMID:[A female child with Down syndrome complicated by spinal cord compression by atlanto-axial dislocation]. 841 98

We report our observations made clinically and by conventional radiography, ultrasound, computed tomography and MRI on a newborn full-term infant with a thrombosed patent aneurysmal ductus arteriosus of Botallo. The baby had no heart murmurs, but from the beginning of the 2nd day of life developed sinus tachycardia, especially when in a left-sided position, and dyspnoea mainly when drinking. From his 1st day of life we observed generalized muscular hypotonia and a tendency for hyperextension at neurological examination.
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PMID:Thrombosed aneurysmal nonpatent ductus arteriosus: a case report. 898 52

We describe two cousins with severe infantile form of myotubular myopathy. In Japan this disease has previously been reported in only three families. Case 1. The propositus, a 2-year-5-month-old boy, had been on a respirator since birth. He had a history of severe neonatal asphyxia and sequential hypotonia with dyspnea. Findings diagnostic of congenital myotubular myopathy, such as central nuclei and peripheral halo of muscle fibers, were demonstrated in his biopsied muscle. Case 2. A male the cousin of case 1 had congenital myopathy and died at 3 months of age due to respiratory failure. His muscle biopsy disclosed the identical findings as had been seen in case 1. These two cases were born to twin mothers, suggesting X-linked recessive inheritance. Early diagnosis and proper treatment of myotubular myopathy are important, because this condition may be erroneously-interpreted as the sequelae of neonatal asphyxia.
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PMID:[Cousins with X-linked recessive myotubular myopathy]. 924 91

A 4-month-old baby girl, after a period of apparent good health, began to have aphonia, dyspnea, difficulties with swallowing, cyanosis, apnea, and hypopnea during sleep that resulted in admission to an intensive care unit for intubation and mechanical ventilation. At the age of 9 months she was admitted to our hospital with a possible diagnosis of central hypoventilation syndrome. A polysomnographic study showed apnea and hypopnea (apnea + hypopnea index = 47.1), hypercapnia (mean end-tidal PCO2 89 +/- 15.0 mmHg), and arterial desaturation (mean SaO2 91 +/- 1.7%; lowest SaO2 < 50%; 68% of total sleep time at SaO2 below 93%); the study also showed an absent ventilatory response to CO2, absent cardiac responses to apnea during sleep, and right ventricular hypertrophy. Nocturnal nasal bi-level positive airway pressure (BIPAP), applied initially at 6 cmH2O and gradually increased to 16 cmH2O, caused the sleep-related abnormal respiratory events to disappear. End-tidal PCO2 decreased to 39 mmHg, and SaO2 increased to 94%. After 6 months of nocturnal BiPAP ventricular right hypertrophy reversed and arrested growth and hypotonia normalized. The child has tolerated and has remained on BiPAP support up to her current age of 3 years and continues to use this form of ventilatory assistance without difficulties.
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PMID:Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome. 926 57


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