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)

We describe an apparent duplication of proximal 15q, i.e., 15q11q12 or 15q12q13 in two patients. Prometaphase chromosome analysis, C-banding and distamycin A/DAPI staining were used to exclude a translocation between the abnormal 15 homolog and another chromosome. The 2 patients have many manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy. Results of high resolution chromosome analysis of the parents of both patients were normal. A comparison between these patients and 2 subjects from previous reports demonstrates phenotypic heterogeneity among the duplication 15q PWS patients. Two patients have the hypopigmentation seen in chromosomally normal and deletion PWS patients. These cases add to the variety of chromosome 15 aberrations which are associated with PWS.
Am J Med Genet 1987 Dec
PMID:Duplication of proximal 15q as a cause of Prader-Willi syndrome. 368 17

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.
Am J Med Genet 1987 Dec
PMID:Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? 368 18

Fifteen patients with deletion of proximal 15q without typical Prader-Willi syndrome (PWS) have been reported previously [Schwartz et al, 1985]. We report on 2 additional patients without typical PWS found to have deletions of 15q11-13 on chromosome analysis done for evaluation of developmental delay. Their manifestations include broad nasal bridge with telecanthus, full nasal tip with flare of nasal alae, long upper lip, posteriorly angulated ears, highly arched palate, hypotonia, seizures and marked developmental delay. It was suggested that there may be a specific phenotype associated with this deletion which differs from PWS. Whether this deletion differs from the deletion associated with PWS awaits delineation on a molecular level.
Am J Med Genet 1987 Dec
PMID:Deletions of proximal 15q without Prader-Willi syndrome. 368 19

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
Am J Med Genet 1987 Dec
PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

Although Prader-Willi syndrome (PWS) patients usually first present with neonatal hypotonia and feeding difficulty, they later show hyperphagia, obesity and mental retardation. Since deletions of chromosomes 15q11-q13 are noted in most PWS patients cytogenetic analysis allows one to diagnose infants suspected of PWS with a greater certainty. We report on 5 hypotonic infants clinically suspected of PWS in the first 3 months of life, whose diagnosis was confirmed by cytogenetic studies showing monosomy of 15q11-q13. Early diagnosis of PWS can lead to prevention of obesity, but counseling of parents has been difficult. Although there are significant benefits to the early diagnosis of PWS, the cost-effectiveness and practicality of screening all hypotonic infants using high resolution cytogenetic analysis has been addressed systematically.
Am J Med Genet 1987 Dec
PMID:Neonatal diagnosis of Prader-Willi syndrome and its implications. 368 23

Muscle tone, if defined as the resistance felt during passive movement of an extremity, is generally explained by the appearance of stretch reflexes. Consequently, hypotonia would be caused by a decrease or disappearance of these reflexes. This notion has never been challenged by experiments that reproduce the clinical situation. In this study two clinical tests, passive extension and flexion movements at the knee joint and a free fall of the lower leg with gravity, were applied to 72 control legs and 35 'hypotonic' legs. EMG activity was measured in the quadriceps muscle. Despite special care to obtain relaxation in the subjects, the majority of control legs showed voluntary EMG activity on passive movement. During free fall, long-latency reflexes were present in a minority of normal subjects, but the velocity of falling in these legs was within the range obtained in the legs without any EMG spikes. If the fall time was prolonged beyond the upper limit of relaxed legs, this was the result of voluntary activity, confirmed by EMG measurements. Therefore, long-latency stretch reflexes play no role in the clinical assessment of 'normal tone'. This conclusion was further supported by the observation that 'hypotonic' legs did not fall faster than relaxed control legs. If patient's legs feel flaccid this is the result of weakness preventing voluntary activity. Passive movements during the clinical examination are of great value, but only to detect spasticity or rigidity.
Brain 1986 Dec
PMID:Hypotonia: an erroneous clinical concept? 379 Sep 72

It has been well documented that children with severe neuromuscular disorders have tall vertebrae, presumably a consequence of altered mechanical forces. This finding was present in four neonates who were born with severe "floppy" hypotonia due to Werdnig-Hoffmann disease (two cases), nonspecific neonatal myopathy, and congenital muscular dystrophy. Fetal vertebral development is normally modified by intrauterine muscle tension and fetal activity.
AJR Am J Roentgenol 1985 Dec
PMID:Tall vertebrae at birth: a radiographic finding in flaccid infants. 387 40

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.
Genetika 1985 Dec
PMID:[A new case of trisomy 5p]. 408 94

It is unknown if abnormal anal sphincter function as assessed by anorectal manometry is still present years after resolution of chronic constipation and encopresis. Twenty healthy controls, 12 children with constipation but no encopresis, and 20 children with chronic constipation and encopresis underwent anorectal manometric testing, using intraluminal pressure transducers and a balloon for rectal distention. Anorectal measurements were repeated in the 20 constipated and encopretic children 2.5-4 yr after treatment began; 11 children had recovered for at least 1 yr. The mean values of anal resting tone and of anal pull-through pressure were lower in the constipated and encopretic children than in the 20 control children (p less than 0.003). Percent relaxation of the rectosphincteric reflex after rectal distention of 30 and 60 ml was lower in constipated children with and without encopresis than in controls (p less than 0.003), whereas the means of rectosphincteric reflex threshold were comparable in the three groups of children. Three years after initiation of treatment with milk of magnesia, high-fiber diet, and bowel training techniques, the mean values of anal resting tone, anal pull-through pressure, and percent relaxation of rectosphincteric reflex remained significantly lower in both recovered and nonrecovered constipated and encopretic patients compared with controls. It was suggested that the underlying cause of chronic constipation is the decreased ability of the internal anal sphincter to relax with rectal distention, and the hypotonia of the anal canal is responsible for the encopresis. Abnormal anorectal functions were still present years after cessation of treatment and recovery and put the recovered patient at risk for recurrence of chronic constipation and encopresis.
Gastroenterology 1984 Dec
PMID:Abnormal rectoanal function in children recovered from chronic constipation and encopresis. 609 98

EMG and nerve conduction studies have limitations and require particular consideration in children. The indications and the main results are considered from the study of 1624 EMGs in 1385 children under 15 years old seen over a period of 3 years. Classification of cases was based on clinical criteria. The diagnostic yield of EMG is emphasized in the evaluation of 122 children with hypotonia and weakness (all under 3 years old); abnormalities were demonstrated in 48% leading to the diagnosis of spinal muscular atrophy in 16%, of congenital myopathies in 11%, and of peripheral neuropathies in 8%. In 103 children with hypotonia associated with mental deficiency and/or seizures, evidence of a peripheral neuropathy was shown in 20%. EMG abnormalities allowing the diagnosis of hereditary motor and sensory neuropathies or myopathies were demonstrated in a wide range of clinical conditions. EMG appears to be useful for the early detection of hereditary myopathies or neuropathies in asymptomatic children. It may have also a prognostic value as in adults, especially in nerve traumas.
Rev Electroencephalogr Neurophysiol Clin 1983 Dec
PMID:[Value of electromyography in the child. Apropos of 1,624 examinations performed over a 3 year period]. 632 4


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