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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle biopsies from quadriceps femoris muscle of normal subjects and subjects with symptoms of congenital myopathy, aged 1-3 years, were examined for morphological and biochemical differences. Four patients showed clinical signs of Congenital Fibre Type Disproportion (CFTD) as described originally by Brooke (1973), while the other cases showed only signs of hypotonia and diffuse weakness as described by Clancy et al. (1980). No morphological differences between patients with different clinical signs were found in any biopsy sample from the quadriceps femoris muscle, as regards fibre size; type I fibres were always smaller than type II fibres. The difference in fibre size was more than 15% in all cases, and the variability coefficient of the larger type II fibres was less than 250. Nevertheless, as regards fibre occurrence, two patients showed more type I fibres than type II fibres, four patients showed more type II fibres than type I fibres and one patient had a marked type II fibre predominance. Enzyme activities assayed in the crude mitochondrial fraction showed no abnormalities between normal subjects and patients. An increase in the activity of lactate dehydrogenase in the crude extract was found in all cases.
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PMID:Congenital muscle fibre type disproportion: clinical, morphological and biochemical findings in children. 275 1

Biopsy of the deltoid muscle of a 4-day-old baby boy with congenital hypotonia and weakness showed zebra bodies and other myopathic changes. Our patient and an other patient reported in the literature establish zebra body myopathy as an ultrastructurally distinct benign congenital myopathy.
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PMID:Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. 282 Oct 96

An infant presented with congenital hypotonia, poor sucking, apathy, and areflexia. Muscle biopsy at two months of age revealed numerous nemaline rods, suggesting congenital nemaline myopathy. During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of hyperthermia and breath-holding spells. The diagnosis was confirmed by positive intradermal histamine and ocular mecholyl tests. The finding of nemaline rods adds a new facet to the recognized polymorphic presentation of familial dysautonomia.
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PMID:Familial dysautonomia manifesting as neonatal nemaline myopathy. 285 35

Dysmaturation (neuro)myopathy without specific histochemical or cytoarchitectural characteristics accounts for many cases of hypotonia in infancy. We obtained a maturation profile for type I and type II fibers from birth to 6 years of age, from which a classification of fiber dysmaturation based on fiber-type hypotrophy and coefficient of fiber variation is presented. We analyzed the morphometric, ultrastructural, and single fiber teasing findings in the sural nerve of ten infants with hypotonia and dysmaturation myopathy based on the above classification. Data on endoneurial area, myelinated fiber density, proportion of large (greater than 6 micron) myelinated fibers, unmyelinated fiber density, regression analyses of myelin area:axon area, and mean myelin thickness were developed. Abnormalities in large myelinated fiber density (3 cases), disturbances in myelination index (5), and single fiber teasing abnormalities in internode length (1) were found. Ultrastructural abnormalities were observed and classified as group 0 changes similar to the five control nerves; group 1, in which rare fibers showed degeneration or basement membrane duplication; and group 2, which was characterized by multiple abnormalities including degenerate nuclei, amyelinate fibers, degeneration/regeneration, excessive basal lamina reduplication, and hypomyelination. This study provides evidence that minimal neuropathic abnormalities are present in the sural nerve of infants carrying a diagnosis of dysmaturation neuromyopathy.
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PMID:Dysmaturation neuromyopathy: correlation with minimal neuropathy in sural nerve biopsies. 276 90

Three cases of nemaline myopathy are reported. The first one was characterized by delayed motor milestones, hypotonia and proximal weakness in a 2-year-old girld. The second case was diagnosed at 19 in a boy who suffered from a severe scoliosis without any neurological sign. The third patient was a 31 year-old man who had a progressive muscular weakness of limb girdles. Muscle biopsy revealed rods in muscle fibers with Gomori trichrome staining in two cases, and by electron microscopy in one case only. Variations of fiber calibration, fiber I predominance and a myofibrillar disorganization were seen in two cases. Clinical, histopathological and physiopathological of nemaline myopathy are discussed.
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PMID:[Nemaline myopathy. General review apropos of 3 cases]. 332 69

Three patients with Walker-Warburg syndrome are reported. In all, severe hypotonia and ocular abnormalities were noted soon after birth, followed by a rapid increase of head size. Examination of the brain showed regions of complete agyria, cortical dysplasia of the cerebrum, cerebellar micropolygyria, marked hydrocephalus and aqueduct stenosis. In skeletal muscles, advanced myopathy consistent with dystrophic change was present. The cortical dysplasia in this syndrome is similar to the severest pattern of the cortical dysplasia seen in Fukuyama congenital muscular dystrophy, but ocular abnormalities are rare in the latter. These two syndromes may be genetically distinct, despite the presence of cortical dysplasia and myopathy in both.
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PMID:Walker-Warburg syndrome with skeletal muscle involvement. A report of three patients. 345 42

Progressive muscular weakness, hypotonia and atrophy are among the cardinal signs of the Marinesco-Sjogren syndrome but have not been extensively investigated. Our study focused on 6 related patients who are members of an inbred population. Muscle biopsies revealed myopathic alterations with variation of fiber size, rounding, degeneration and regeneration of fibers, internalization of nuclei and endomysial fat and fibrosis. Most patients had elevated serum creatine kinase levels. One patient revealed endstage neuromuscular disease and had normal serum creatine kinase levels. Of particular interest was the finding of conspicuous myopathy in 2 young children. Thus far, it has not been appreciated that myopathy represents an early sign of the Marinesco-Sjogren syndrome.
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PMID:Myopathy in Marinesco-Sjogren syndrome. 346 98

An infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain fatty acids were elevated in blood and fibroblasts and the oxidation of 14C-labeled fatty acids was defective. Urinary pipecolic acid content was increased. Activity of the peroxisomal dihydroxyacetone phosphate acyltransferase, which catalyzes the first step in plasmalogen synthesis, was decreased.
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PMID:Myopathy in an infant with a fatal peroxisomal disorder. 350 88

A 28-month-old male with generalized hypotonia and muscle weakness, a myopathic face, skeletal dysmorphism and delayed motor milestones from birth is reported. He gradually developed the ability of sitting and rolling over, but could not stand without support until 28 months. There was no intellectual impairment or seizures. Deep tendon reflexes were absent. The serum CK value, peripheral nerve conduction velocity and EMG were within normal limits. A muscle biopsy specimen showed mild variation in fiber size, and an increased number of type 2C fibers on histochemical examination, but no apparent abnormalities on electron microscopy. The baby was tentatively diagnosed as having minimal change myopathy or nonspecific congenital myopathy which is thought to be one of the congenital nonprogressive myopathies.
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PMID:Nonspecific congenital myopathy (minimal change myopathy): a case report. 360 41

Three sisters with myopathy characterized by different degrees of weakness, hypotonia, cramps and a significant hypertrophy of the calves underwent clinical tests. Laboratory examinations (nerve conduction velocity, electromyography and serum enzymes), serial histochemical analyses of muscle specimens and tests for muscular acetylcholinesterase (AChE) activity and its molecular forms were performed. AChE activities did not differ significantly from those of controls, while sedimentation patterns evidenced the disappearance of 16 S, 13 S and 10 S molecular forms in the elder sisters. The genealogical tree of the patients is described and their cases compared to those of others with calf hypertrophy reported in the literature.
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PMID:Muscle acetylcholinesterase in a familial myopathic disease. 362 73


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