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 report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
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PMID:[Cystinuria with symptoms of cerebellar atrophy--a case report]. 189 74

Williams-Beuren syndrome (WBS) is a disorder of unknown aetiology. The classical features of the syndrome include a typical ('elfin') facies, mental retardation and heart defects. Myopathy has not so far been part of the spectrum of WBS. We studied six patients with WBS aged 3-25 years, five of whom showed clinical and morphological evidence of myopathy. The clinical manifestations of myopathy included hypotonia in infancy, walking delay, joint contractures, scoliosis, and increased exhaustion on exertion. These symptoms were present in variable expression but part of a typical postural pattern. Examination of muscle biopsies showed lipid storage in four patients and increased variability of fibre size in three. In one patient a muscle biopsy gave normal results. Biochemical investigation in four patients with morphological evidence of lipid storage in muscle revealed muscle carnitine deficiency in three. In addition, enzyme activities of fatty acid beta-oxidation were low in one of two specimens tested. It is concluded that a clinically relevant myopathy is part of the multi-system manifestation of WBS and a clinical trial of carnitine supplementation is justified.
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PMID:Myopathy in Williams-Beuren syndrome. 191 7

The Prader-Willi syndrome is characterized by infantile hypotonia, early childhood obesity, mental deficiency, short stature, small hands and feet, and hypogonadism. Many patients also have hypersomnolence, experience daytime hypoventilation, and subsequently die prematurely of cardiorespiratory failure. Hypersomnolence and daytime hypoventilation are also common occurrences in the sleep apnea syndrome. For a better understanding of the relationship of sleep to the features of the Prader-Willi syndrome, we retrospectively reviewed five patients (two adults, one adolescent, and two children) with this syndrome who underwent polysomnography. All patients were obese; they had hypersomnolence and daytime hypoxemia, and they nored. In all patients, the apnea plus hypopnea index was less than 10 episodes per hour of sleep. During rapid eye movement sleep, nonapneic reductions in oxyhemoglobin saturation were detected in one adult and in one child. Despite the presence of morbid obesity and a history of snoring, patients with Prader-Willi syndrome seem to have only mild sleep-disordered breathing.
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PMID:Sleep and breathing in patients with the Prader-Willi syndrome. 194 44

We report on a 4 generation family of individuals with an X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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PMID:New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 201 58

A case of a 4-year old boy with de Grouchy syndrome was reported. The patient showed generalised muscular hypotonia, marked mental retardation (RQ = 30), developmental milestones retarded, craniofacial dysmorphic features, congenital heart disease, abnormalities of the external genitalia and skeletal deformities. The karyotype analysis revealed a partial deletion of the distal bands of chromosome 18:48 48 xy del (18) (q 22----qter). Qualitative and quantitative characteristics analysis of digital and palmar dermatoglyphics supported the diagnosis.
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PMID:[The (18)(q 22----qter) deletion in patients with complete clinical features of the De Grouchy syndrome]. 207 33

Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome.
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PMID:Megalocornea, macrocephaly, mental and motor retardation (MMMM). 220 67

A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. Typical clinical manifestations of the syndrome; i.e., mental deficiency, hypotonia, characteristic facial appearance, long, narrow hands and feet with elongated fingers, and mottled retinae were present in both patients. Both patients also had leukopenia. Clinical manifestations of the Cohen syndrome in patients are highly variable, and mottled retina has been observed in 22 of 87 patients (25%). However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. Among 19 familial cases, mottled retina was observed in all affected sibs from five families, but in 13 families none of the affected sibs had the mottled retina. All Finnish patients had the mottled retina, but this was noted in only one of 39 Jewish patients. Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies.
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PMID:The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? 224 27

Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.
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PMID:Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). 226 Jun 6

Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation.
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PMID:Prader-Labhart-Willi syndrome. 227 77

A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.
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PMID:The acrocallosal syndrome in a Turkish boy. 230 55


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