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)

Thirty-three patients with glycogen abnormalities and myocardial disease were studied. 27 of them has type II glycogen disorders (Pompe's disease, with an intralysozymal deficit of acid maltase) and 6 with type III glycogen disorders Forbes disease, with a deficit in amylo-1-6-glucosidase). The picture of a type II abnormality in the infant is very standard: early onset, often neonatally; the association with asystole and muscular hypotonia and a characteristics clinical picture; invariable cardiomegaly and typical ECG findings (short PR interval, high voltage complexes). Death occurs before one year of age, treatment has limited effect, and attention is centred on the early discovery of heterozygotes and of diagnosis antenatally. The possibility of an obstructive type (4 out of 24) and a type with endocardial fibroelastosis (3 out of 24) must be emphasised. In the late onset myopathic form of type II disorder (3 cases), involvement of the myocardium is always found, but is of secondary importance in determining the clinical picture and natural history. The same can be said of type III disorders in which, despite the infrequency of asystole or significant cardiomegaly, a hypertrophic cardiomyopathy which may be obstructive can lead to sudden death in infancy (2 cases out of 6).
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PMID:[The myocardiopathies of glycogenosis]. 14 22

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.
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PMID:The Coffin-Siris syndrome. 15 76

Three girls with mosaic mongolism (46, XX/47, XX, +21) were followed cytogenetically and psychologically from the time of diagnosis at 8, 17 and 32 months of age, respectively, to the age of 13--15.5 years. All showed muscular hypotonia and hyperflexible joints at the time of diagnosis, but otherwise the physical characteristics of Down's syndrome were weakly expressed. The percentage of trisomic cells in the peripheral blood decresed with time, but were still higher in lymphocytes than in skin fibroblasts at the last investigation. Developmental milestones were delayed in all cases, and the developmental and intelligence quotients were decreased. Mental retardation was only slight in one of the cases (I.G. = 65 at the age of 14 years 8 months). The intelligence quotients showed declining trends with time. Social ability and school results tended to be better than could be expected from the test results.
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PMID:A prospective psychological and cytogenetic study of three girls with mosaic mongolism. 15 51

Our experience with a cheap contrast medium, which we prepare ourselves, is described, stretching over a period of 18 months. It is based on the bubbly barium first described by Op den Orth and is made by means of carbon dioxide in a soda water syphon. It is better for detailed contrast examination of the stomach than the commercially available contrast media. It is thought that this is due to optimal viscosity for wetting of the mucosa, optimal size of the barium sulphate particles, which are larger than one micron, and greater distension of the stomach due to greater quantities of CO2. The use of bubbly barium for routine examination of the stomach, using double contrast and hypotonia with graded compression, almost always results in demonstration of the areae gastricae in large parts of the stomach. We regard this as a sign of a good examination, since we are then able to demonstrate small lesions such as complete or incomplete erosions, ulcer scars or flat ulcers.
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PMID:[Improved radiological diagnosis in the stomach by means of an improved contrast material (author's transl)]. 15 49

A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were filled with numerous cytoplasmic bodies. These bodies measured 1 mu in diameter and appeared to be dense, round masses with poorly defined internal structure but with occasional slightly curved parallel lines and small radiolucent areas. Peripheral nerve involvement may be a frequent finding in patients with classic Niemann-Pick disease.
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PMID:Peripheral neuropathy in classic Niemann-Pick disease: ultrastructure of nerves and skeletal muscles. 16 50

The airway of the young infant is anatomically vulnerable at the oropharyngeal level between the soft palate and the base of the skull. Airway occlusion at this level might occur during the muscle relaxation which occurs during REM sleep, facilitated by a hypermobile mandible, by the hypotonia of infection, perhaps by an enlarged tongue with a strong backwards sucking action which might be the result of the artificial feeding of the infant. It is possible that "cot deaths" (SIDS) may be precipitated by such oropharyngeal airway occlusion, cardiac arrest following variable periods of partial or complete oxygen deprivation.
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PMID:Sudden infant death syndrome: hypothesis of causation. 16 52

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 16 96

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 17 65

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).
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PMID:[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)]. 18 73

Concentric laminated bodies were identified in the skeletal muscle of 3 children affected by muscle weakness and hypotonia with probable cerebral involvement. The mean Z-line and M-line widths from each of 11 muscle fibers containing the concentric laminated bodies were calculated. The mean Z-line widths were 61-81 nm and the mean M-line widths from 7 out of 11 fibers were 54-65 nm. According to our present system of fiber typing, the majority of these fibers would be classified as subtype IIB. The possible pathogenesis and fiber type specificity of the concentric laminated body is discussed.
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PMID:Concentric laminated bodies. Ultrastructural demonstration of muscle fiber type specificity. 18 37


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