Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although it is well known fact that patients with Lowe syndrome have a delay in developmental milestones, muscle hypotonia and weakness, no detailed pathologic study to explain the muscle symptoms is available. In two patients with Lowe syndrome aged 22 years and 14 years, respectively, the biopsied biceps brachii muscles showed no significant morphologic changes except for small caliber fibers measuring almost 1/3 of the normal size. Although the muscle fiber type distribution is normal with no increase in undifferentiated type 2 C fibers, there remains a possibility of a certain defective neural influence on developing muscle fibers or metabolic defect. The muscle fiber immaturity is probably responsible for muscle weakness and hypotonia in this syndrome.
No To Hattatsu 1994 Sep
PMID:[Muscle fiber involvement in Lowe syndrome]. 791 93

We report a neonate who presented with marked hypotonia and absent suck reflex. MR demonstrated complete absence of the pons as well as absence of a basilar artery flow void. Our case exhibits features similar to those described in previous reports of pontoneocerebellar hypoplasia, but with a more severe degree of pontine involvement. The associated vascular findings suggest a vascular insult to the brain stem as the cause.
AJNR Am J Neuroradiol 1994 Sep
PMID:Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? 798 67

Recently great attention is paid to hypotonia of the orofacial region because this disorder is a great handicap for mentally normal children. In the submitted paper the authors demonstrate treatment of a girl who suffered from hypotonia of the orofacial region with hypersalivation to the age of four years. After intensive therapy complete normalization of this developmental defect was achieved.
Cesk Pediatr 1993 Sep
PMID:[The Castillo-Morales method in children with orofacial hypotonia]. 825 56

In a prospective study of 12 patients undergoing operation for acoustic neuromas, the hearing on the contralateral ear was tested before and systematically after operation. In 11 cases a perceptive loss of at least 20 dB was found at one or more frequencies during the first two postoperative weeks. The maximal average threshold decrease was 16.5 dB in the treble and 19.6 in the low frequencies. After three months the hearing had normalized in all cases. The loss of cerebrospinal fluid during operation diminishes the CSF pressure, which is then transmitted to the perilymph via the cochlear aqueduct, producing a transitory perilymphatic hypotonia and a relative endolymphatic hypertension mimicking an endolymphatic hydrops.
Ugeskr Laeger 1993 Sep 20
PMID:[Reversible hearing loss in the contralateral ear after surgery of acoustic neurinoma]. 825 8

Two-hundred fifty infants with high and no risk history transitory neurological findings (TNF) were examined during the first year of life. The neurological situation and the developmental progress were reconsidered in these children at 2.5-4.5 and 5-7 years of age. TNF were diagnosed mainly during the first two trimesters. Hyperirritability and asymmetries resolved to about 70% during the first half of the first year of life. In contrast, isolated central hypotonia resolved over a much longer period. No correlations of distinct types of TNF could be found with VLBW and LBW-infants, with fullterm infants, with birthweights, nor with risk factors. Children who developed spastic CP presented permanent hypertonia beside other specific neurological symptoms during the second half of the first year of life. Children with lasting non-spastic handicaps showed permanent hypotonia combined with other neurological abnormalities and symptoms of psychomotor retardation, which evolved also during the second half of the first year. From these results the question arises: which parts of TNF are essentially neurobiological findings indicating processes of transformation of the sensory motor system from non-intentional fetal to intentional motor behaviour of early infancy. TNF, then, should not longer be looked at as symptoms of pathological value only.
Early Hum Dev 1993 Sep
PMID:Transitory neurological findings in a population of at risk infants. 827 75

Robertsonian translocations are usually ascertained through abnormal children, making proposed phenotypic effects of apparently balanced translocations difficult to study in an unbiased way. From molecular genetic studies, though, some apparently balanced rearrangements are now known to be associated with phenotypic abnormalities resulting from uniparental disomy. Molecular explanations for other cases in which abnormality is seen in a balanced translocation carrier are being sought. In the present paper, an infant is described who has retarded growth, developmental delay, gross muscular hypotonia, slender habitus, frontal bossing, micrognathia, hooked nose, abundant wispy hair, and blue sclerae. Cytogenetically, she appeared to be a carrier of a balanced, paternally derived 14;21 Robertsonian translocation. Analysis of DNA polymorphisms showed that she had no paternal allele at the D14S13 locus (14q32). Study of additional DNA markers within 14q32 revealed that her previously undescribed phenotype results from an interstitial microdeletion within 14q32. Fluorescent in situ hybridization was used to show that this microdeletion had occurred de novo on the Robertsonian translocation chromosome. These observations may reactivate old suspicions of a causal association between Robertsonian translocations and de novo rearrangements in offspring; a systematic search for similar subcytogenetic rearrangements in other families, in which there are phenotypically abnormal children with apparently balanced translocations, may be fruitful. The clinical and molecular genetic data presented also define a new contiguous gene syndrome due to interstitial 14q32 deletion.
Am J Hum Genet 1993 Sep
PMID:De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier. 835 73

Based on previous studies, we hypothesized that the pharynx collapses at multiple sites in most patients with obstructive sleep apnea (OSA). The purpose of this study was to document, in a population of apneic subjects, the site(s) of narrowing and closing pressure of the hypotonic pharynx. We endoscopically examined the pharynx in 45 OSA patients during sleep while they received nasal continuous positive airway pressure (CPAP), which produces hypotonia of pharyngeal muscles. Intrapharyngeal images and pressures were obtained at the end of expiration during single-breath tests (SBT). The fractional narrowing (FN) of each pharyngeal segment (nasopharynx, oropharynx, and hypopharynx) was calculated as the relative change in area when nasal airway pressure was reduced from a pressure that held the pharynx fully distended to the pressure at which the airway closed. The frequency distribution of FN for the nasopharynx was skewed toward larger values, and the frequency was relatively evenly distributed for the oropharynx and hypopharynx. A site having FN greater than 0.75 was defined as a site of primary narrowing, and a site showing FN 0.25 to 0.75 was defined as a site of secondary narrowing. The nasopharynx was a site of primary narrowing in 80% of patients, and two or more sites of narrowing were commonly observed (82%). Four categories of combined narrowing were identified: (1) primary narrowing only at the nasopharynx (18%); (2) primary narrowing at the nasopharynx plus other sites of secondary narrowing (40%); (3) primary narrowing at the nasopharynx plus other sites of primary narrowing (22%); and (4) other patterns (20%).(ABSTRACT TRUNCATED AT 250 WORDS)
Am Rev Respir Dis 1993 Sep
PMID:Pharyngeal narrowing and closing pressures in patients with obstructive sleep apnea. 836 30

A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotonia with feeding problems during infancy followed by hyperphagia from toddlerhood. We describe five new fragile X patients and present a clinical update of three previously described patients with the PW-like phenotype. In one family, segregation of either the classical Martin-Bell or the PW-like phenotype was observed and in another family there was repeated transmission of the PW-like phenotype. Previously, one of the patients had been misdiagnosed as having classical PWS, based on clinical findings. Molecular studies of the FMR-1 gene showed the typical full mutations as seen in fragile X syndrome males. Molecular analysis of the 15q11-13 region, which is deleted in the majority of classical PWS patients, did not show any detectable abnormalities. In a group of 26 patients with suspected Prader-Willi syndrome but without detectable molecular abnormalities of chromosome 15, one fragile X patient was found. These clinical and molecular findings illustrate the necessity to perform DNA analysis of the FMR-1 gene in mentally retarded patients presenting with a PW phenotype but without the PWS specific cytogenetic/molecular abnormalities of chromosome 15.
J Med Genet 1993 Sep
PMID:Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. 801 84

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter-->p23.1::p23.1-->p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion.
Am J Med Genet 1995 Sep 11
PMID:Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. 853 24

A male infant, born from consanguineous parents, suffered from birth with a progressive neuromuscular disorder characterized by psychomotor delay, hypotonia, muscle weakness and wasting, deep-tendon areflexia and spastic posture. High levels of lactic acid in blood and cerebrospinal fluid suggested a mitochondrial respiratory chain defect. Muscle biopsy revealed ragged-red and cytochrome c oxidase-negative fibres, lipid accumulation and dystrophic changes. Multiple defects of respiratory complexes were detected in muscle homogenate, but cultured fibroblasts, myoblasts and myotubes were normal. Southern blot analysis showed markedly reduced levels of mitochondrial DNA (mtDNA) in muscle, while lymphocytes, fibroblasts and muscle precursor cells were normal. Neither depletion of mtDNA nor abnormalities of the respiratory complexes were observed in innervated muscle fibres cultured for as long as 4 months. No mutations were observed in two candidate nuclear genes, mtTFA and mtSSB, retro-transcribed, amplified and sequenced from the proband's mRNA. Sequence analysis of the mtDNA D-loop and of the origin of replication of the mtDNA light strand failed to identify potentially pathogenic mutations of these replicative elements in the proband's muscle mtDNA. Our findings indicate that mtDNA depletion is due to a nuclear encoded gene and suggest that the abnormality underlying defective mtDNA propagation must occur after muscle differentiation in vivo.
J Neurol 1995 Sep
PMID:Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. 855 15


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>