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)

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.
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PMID:Multicore myopathy, microcephaly, aganglionosis, and short stature. 793 Apr 5

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.
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PMID:Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. 797 72

Two unrelated infants with low Apgar scores, pneumothoraces, and severe pulmonary hypertension were treated with extracorporeal membrane oxygenation while receiving chemical sedation and neuromuscular paralysis. After decannulation from extracorporeal membrane oxygenation, hypotonia and hypoventilation persisted. Neurologic evaluation confirmed that both infants had a congenital myopathy.
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PMID:Early-onset respiratory failure caused by severe congenital neuromuscular disease. 815 83

The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history and clinical findings suggested a postasphyxia syndrome, but dependence on mechanical ventilation in the absence of severe brain damage or evidence of heart and lung involvement prompted us to perform a muscle biopsy. The typical rod-shaped bodies of nemaline myopathy were observed in skeletal and heart muscle which is unusual in infantile forms. Neonatal bone fractures, which have not been reported previously, were detected. Due to the rapid evolution of the neonatal form, many of these patients may die undiagnosed in the perinatal period, the families remaining unaware of the existence of the genetic disorder. Therefore, if severe hypotonia persists in a neonate, together with dependence on assisted breathing, specific examinations, such as muscle enzyme determination, NCV, EMG and if indicated, muscle biopsy should be performed to rule out neuromuscular disease.
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PMID:A new case of severe congenital nemaline myopathy. 815 33

Eighty infants with nonarthrogrypotic floppy infant syndrome (FIS) were evaluated between 1979 and 1990. Electromyographic data were correlated with results of muscle and nerve biopsies in 41 of 80 who had concomitant biopsies (38) or other diagnostic analyses (3). A diagnosis was made of Werdnig-Hoffmann disease (WHD) in 15, a congenital infantile polyneuropathy (IPN) in 3, neuromuscular transmission defect (NMTD) in 2, myopathy in 12, and presumed "central" hypotonia in 9. A very positive correlation rate between nerve conduction studies with electromyography and biopsy results was found in 93% (14 of 15) with WHD and 100% in IPN (3 of 3). However, only 4 of 10 infants (40%) with biopsy-proven myopathy had an abnormal EMG. Only once did the results of electromyography and biopsy conflict.
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PMID:Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant. 817 Apr 89

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized hypotonia, muscle weakness, and primary asphyxia, has recently been mapped to Xq28. This report presents the first four prenatal diagnoses of XLR-CNM using DNA markers of the Xq28 region. The analyses of one female and three male fetuses revealed maternal transmission of the XLR-CNM-associated alleles in all four cases. Two of the male fetuses have been aborted, and the pregnancies of the third male and the female fetuses have been continued. The diagnosis of XLR-CNM at the birth of the third boy, as well as the pathologic findings in the muscle of one of the aborted fetuses, confirmed the linkage results of the prenatal analyses. Our findings prove the DNA markers St14, cpX67, DX13, and pSt35-691 to be useful in prenatal diagnosis of XLR-CNM and present the possibility to confirm the diagnosis by histologic examination of the first-trimester abortus. This permits an indirect prenatal diagnosis of XLR-CNM in chorionic villus biopsies at 9 to 12 wk gestation, using DNA-based linkage analyses allowing early termination of an affected pregnancy.
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PMID:Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis. 843 96

A case of an unusual congenital myopathy is reported. The boy presented at birth with generalized muscular hypotonia and dysmorphic features. Muscle biopsy at the age of 10 years revealed focal areas with decreased ATPase activity and variable oxidative enzyme activity. There was only one type II fiber in the whole section. 22.5% of fibers had central nuclei, sometimes with radial arrangement of the intermyofibrillary network. Focal lesions displayed strong desmin and weak vimentin immunoreactivity. On electron microscopic examination normal sarcomeres were focally disrupted and mitochondria were absent from these areas; the normal structure was replaced by numerous fragments of sarcoplasmic reticulum, filamentous material, scattered glycogen particles, and the Z-line was replaced by irregular longitudinal streaks of electron-dense fibrillar material. We classify this case as a congenital myopathy with focal loss of cross striations.
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PMID:Congenital myopathy with focal loss of cross striations: a case report with morphologic and immunohistochemical study. 854 96

X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres. We have restricted the candidate region to 280 kb and characterized two candidate genes using positional cloning strategies. The presence of frameshift or missense mutations (of which two are new mutations) in seven patients proved that one of these genes is indeed implicated in MTM1. The protein encoded by the MTM1 gene is highly conserved in yeast, which is surprising for a muscle specific disease. The protein contains the consensus sequence for the active site of tyrosine phosphatases, a wide class of proteins involved in signal transduction. At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man.
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PMID:A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. 864 Feb 23

X-linked myotubular myopathy (MTM1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Perinatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTM1 locus to a physical region of less than one megabase (Mb) at proximal Xq28. Two new microsatellite markers were developed and assigned in the MTM1 candidate region. We applied them and other DNA markers for prenatal diagnosis in two families. In one case, an affected fetus was predicted and a recombination event was observed with two more distal markers in the region. The second fetus was born unaffected as predicted. The new DNA markers and the precise location of the MTM1 gene provide an improvement for early prenatal diagnosis of the disease. We present suggestions for different combinations of linked and flanking DNA markers for maximal informativeness and accuracy.
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PMID:Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. 871 Jul 76


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