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)

The neuroleptic effect and tolerability of roxindole (EMD 49,980), an agonist of the dopamine-D2 autoreceptor, was studied during a 4 week treatment period in 7 patients with paranoid-hallucinatory schizophrenia (ICD-9: 295.3). In patients with a daily dosage of up to 4.5 mg/day, there was no improvement as measured with the total score of the BPRS scale. In contrast, patients with a daily dosage of up to 30 mg/day showed a slight improvement, especially in items associated with negative symptoms. In 3 patients there were slight adverse events (dizziness, hypersalivation, hypotonia, nausea/vomiting, miction disturbance) which were probably connected with the intake of roxindole.
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PMID:Early clinical results with the neuroleptic roxindole (EMD 49,980) in the treatment of schizophrenia--an open study. 135 88

I-cell disease is a rare inborn error of mucolipid metabolism that is characterized by generalized hypotonia, thick and tight skin, restriction of joint motion, coarse facial features, bony deformities, and an inability to stand or walk. A case was treated with gentle stretching, neurodevelopmental therapy, and strengthening exercises of both hip and knee extensor muscles. After this treatment the patient was able to ambulate with moderate support using bilateral long leg braces.
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PMID:I-cell disease and its rehabilitation: case study. 617 11

We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; American Psychiatric Association, 1994], and International Classification of Diseases ( ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic Interview -Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX,+idic(15)(q11.2), 47,XX, +idic(15) (q11.2), and 47,XY,+idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies.
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PMID:Three probands with autistic disorder and isodicentric chromosome 15. 1089 16

Mucolipidosis type II (MLSII) is a rare hereditary disorder of lysosomal storage. Affected individuals have severely impaired growth and rarely exceed 8 kg for body weight or 70 cm in height. Additional systemic features include; kyphoscolosis, umbilical and inguinal hernias, generalized hypotonia, and murmur of aortic insufficiency. Several oral manifestations have also been described, including gingival hyperplasia, macroglossia, impaired enamel formation, and delayed tooth eruption. Although the precise mechanisms responsible for the variety of clinical features is not fully understood, the underlying pathophysiology of MLSII is related to a lysosomal enzyme deficiency in which uridine diphospho-N-acetylglucosamine:N-acetylglucosylaminyl-1-phosphotransferase activity is impaired. This enzymatic deficiency, similar to other lysosomal enzyme deficiencies, leads to alteration in cellular architecture. There is abnormal vacuolization in cells of mesenchymal origin, especially fibroblasts, which leads to abnormalities in connective tissues. As a result, the skeletal system, cardiac valves, and renal glomerular podocytes are frequently involved. Unfortunately, complications related to cardiac and renal disease often severely compromise patient survival. Here we report the radiographic and histologic features of multiple radiolucent lesions associated with impacted teeth in a 12-year-old male with MLSII and review the relevant literature associated with this rare condition.
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PMID:Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case report. 1765 21