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)

Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait.
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PMID:Congenital, hypotonic-sclerotic muscular dystrophy. 60 94

Ondine's syndrome is a rare condition characterised by alveolar hypoventilation during sleep on account of an abnormality in the automatic control of respiration. The respiration centre does not react adequately to the carbon dioxide tension in the blood required to maintain normal ventilation. We present a description of the course in an infant with congenital Ondine's syndrome because a therapeutic possibility is now available, viz, implantation of a phrenic nerve pacemaker. The infants showed respiratory insufficiency shortly after delivery. This disappeared on tactile stimulation. The infant had generalised hypotonia with absent patellar reflexes and weak sucking reflexes and, at the age of one week, seizures developed. The infant was treated with assisted ventilation but this could be reduced to use only during the period when the infant slept. The infant was in good health with normal psychomotor development until the age of two years. Plans had been made to implant a phrenic nerve pacemaker. Unfortunately, the infant developed Syncytial-virus pneumonia complicated by bacterial superinfection and developed severe anoxic brain damage which subsequently proved fatal.
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PMID:[Ondine's syndrome (alveolar hypoventilation)]. 150 98

The system proteinases-inhibitors and renin were studied in 105 acute pneumonia (AP) patients, the blood of whom was examined for concentrations of elastase, acid proteases (AP), alpha 1-inhibitor of proteases (alpha 1-IP), alpha 2-macroglobulin (alpha 2-MG) and active or inactive, total renin (TR). A separate group included 18 AP cases complicated by infective toxic shock (ITS). An imbalance was proved in the system proteinases-inhibitors with dominance of the inhibitory potential. In a "cold" variant of ITS proteolytic blood activity rose while the inhibitory capacity fell. Moderate and severe AP forms were associated with lowered blood levels of active R and elevated of inactive R, TR. In arterial hypotonia and ITS these changes were most demonstrable. Elastase, alpha 1-IP, alpha 2-MG and active R, inactive R, TR exhibited close correlation. The discussion covered mechanisms of hemodynamic disturbances in AP with consideration of depressed renin-angiotensin system and imbalance of proteinases and their inhibitors.
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PMID:[Proteinase-inhibitors and renin in the pathogenesis of vascular insufficiency in acute pneumonia]. 161 Dec 68

The predictive values of some early post-traumatic clinical symptoms and signs and laboratory tests on the problems, complications and prognosis of the initial treatment of tetraplegic patients were studied. The study was carried out by scrutinizing the files of 54 patients with a cervical spinal cord injury (40 of them complete and 14 incomplete). Most of the patients (n = 43) needed ventilatory support, the duration of which depended on the level and completeness of the spinal cord injury. Bradycardia, hypotonia and tachypnoea at admission occurred most frequently in those patients who later developed complications or died. In addition, the frequency of complications correlated with a patient's age, previous diseases and with the height and degree of the spinal cord injury. Tachypnoea on admission forecast the later development of respiratory complications. All 8 patients who died, 5 of them from pneumonia and 3 from pulmonary embolism, had their spinal cord injury at the level C4 to C5 and they were significantly older than those who survived.
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PMID:Cervical spinal cord injury: the correlations of initial clinical features and blood gas analyses with early prognosis. 249 25

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
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PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.
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PMID:Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders. 649 35

An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase complex in his platelets and of pyruvate decarboxylase in his muscle. When placed on a low carbohydrate-high fat diet for 6 months, his blood levels of lactate and pyruvate became nearly normal, but his cerebrospinal fluid levels of lactate and pyruvate remained high. Despite this dietary therapy, neurologic deterioration progressed slowly. He died of pneumonia after artificial respiration for 3 wk. At autopsy, extensive symmetric lesions were found in the brain including proliferation of capillaries and gliosis in the brain stem and diffuse demyelination in the white matter. These lesions were consistent with those observed in Leigh's disease. The activities of the pyruvate dehydrogenase complex and pyruvate decarboxylase in various tissues obtained at autopsy were less than 10% of control values; however, the activities of pyruvate carboxylase and alpha-ketoglutarate decarboxylase were within the normal limits. This patient with Leigh's disease had an isolated deficiency of pyruvate decarboxylase in various tissues.
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PMID:Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. 709 58

We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as by muscular biopsy. DNA analysis of both X chromosomes showed no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy. After 4 weeks of intensive care therapy the patient died of multiorgan failure. At autopsy she had only microscopically visible fetal adrenal cells and multiple porencephalic lesions.
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PMID:[Congenital adrenal gland insufficiency and myopathy]. 770 32

The outcomes for five patients with retinoblastoma and constitutional chromosomal abnormalities involving the long arm of chromosome 13 are reported. All patients demonstrated developmental delay and mental retardation. Four of these patients are alive 23, 21, 15, and 1 year from diagnosis; one died of pneumonia with septicemia. Each of the four survivors has, with aging, shown hypotonia, mutism, contractures, and inability to function independently.
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PMID:Outcome for patients with constitutional 13q chromosomal abnormalities and retinoblastoma. 782 49

A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.
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PMID:Leigh disease (subacute necrotizing encephalomyelopathy): report of one case. 821 61


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