Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases are reported of occlusive disease of the bilateral internal carotid arteries with dementia in which the anastomosis of the superficial temporal artery to the middle cerebral artery (STA-MCA bypass) resulted in marked improvement in clinical aspects. One patient was a 29-year-old male who complained of transient weakness of the extremities and memory impairment. Computerized tomography (CT) scans showed multiple small infarctions, while cerebral angiography demonstrated findings of Moya-like disease. The cognitive function tests were subnormal and the study of cerebral blood flow (CBF study) showed diffuse low flow in both hemispheres. Based on his clinical symptoms and CBF study, the STA-MCA bypass was performed on both sides in two stages without complications. Postoperatively, his clinical symptoms and cognitive function improved gradually, in accordance with increased CBF in both hemispheres. Six months after the operation, cognitive function tests were within normal limits. Another patient was a 61-year-old hypertensive male who complained of motor weakness, impairment of memory and urinary incontinence. CT scans showed multiple small infarctions, while cerebral angiography revealed occlusion of both internal carotid arteries at the cervical portion. The cognitive function was at the pre-dementia level, and CBF study revealed diffuse low flow in both hemispheres. Based on the clinical symptoms and CBF study, the STA-MCA bypass was performed on both sides in two stages. Postoperatively, clinical symptoms and cognitive function markedly improved. From our results, the diagnosis of vascular dementia, and indications for the use of STA-MCA bypass in this category of patients are discussed.
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PMID:[Anastomosis of the superficial temporal artery to the middle cerebral artery for occlusive disease of the bilateral internal carotid arteries with dementia]. 224 99

The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28 led to the identification of the gene responsible for the disease. We now report the sequence of the gene which is 2100 bp long and the development of a set of primers to amplify and sequence the gene from patients' DNA. Eight unrelated X-linked familial cases were studied and they all carried different mutations, showing that lack of emerin in cardiac and skeletal muscle is the cause of the X-linked disease. No mutations were found in a family where the female carrier was affected nor in a sporadic case with a well established diagnosis of EDMD. Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-linked STA gene and one unidentified autosomal gene, are responsible for the disease.
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PMID:Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 859 7

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA), that encodes a serine-rich protein of 254 amino acids, named emerin. In 1996, we discovered a nuclear membrane localization of emerin in the normal skeletal, cardiac and smooth muscles, but not in the tissues from patients with X-linked EDMD who had a nonsense mutation in the gene. In conclusion, molecular and genetic analyses of emerin are essential for accurate diagnosis of patients with EDMD.
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PMID:[Emery-Dreifuss muscular dystrophy]. 943 33

Emery-Dreifuss muscular dystrophy (EMD) is an inherited myopathy characterised by muscle contractures, progressive muscle wasting and weakness, with humeroperoneal distribution. Cardiac arrhythmia and heart conduction block are also important characteristics of this disease. The X-linked form of EMD is caused by the absence of emerin, encoded by the STA gene (Xq28). Emerin is normally localized in muscle and other tissues at the nuclear rim. Currently, muscle and skin biopsies are used for the immunohistochemical diagnosis. We demonstrate that emerin is present in the cheek oral mucosa, in the exfoliating epithelial cells, and we propose the collection of these cells as a new method for the diagnosis of X-linked EMD patients and the detection of carriers by immunofluorescence techniques: smears from healthy subjects contained about 98% emerin-positive cells, those from X-linked EMD patients contained none and those from carriers contained about 45%. The technique is completely non-invasive, simple, repeatable and inexpensive.
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PMID:Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. 960 58

Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle weakness and wasting, and contractures of the tendo Achilles, elbows and paraspinal muscles, resulting in spine rigidity. We present here a case of Emery-Dreifuss muscular dystrophy with an unusually severe, early presentation. He presented at 2.5 years with predominantly proximal weakness and mild equinovarus deformity of the right foot. Serum creatine kinase activity was elevated (1994 IU/I) and a muscle biopsy at the age of 4 years showed marked dystrophic abnormalities. Normal expression of dystrophin, and no detectable deletion in the corresponding gene, excluded a diagnosis of Duchenne muscular dystrophy. Similarly, normal expression of alpha-sarcoglycan made a limb-girdle muscular dystrophy caused by a defect in a sarcoglycan unlikely. Several years later, examination of the proband's maternal cousin, aged 14 years, suggested Emery-Dreifuss muscular dystrophy. This was confirmed in both affected boys by the absence of emerin in muscle and leucocytes, and identification of a mutation in exon 4 of the STA gene. Carrier status in both mothers was also confirmed by mutational and protein analysis. Emery-Dreifuss muscular dystrophy should therefore be considered in the differential diagnosis of cases of early onset muscular dystrophy, even in the absence of the typical clinical features.
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PMID:Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. 960 59

The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers. The defect is in the gene coding for emerin, a 254 amino acid protein of unknown function. Complementary and genomic DNA from T lymphocytes from the reported patients and their family members were amplified, cloned, and sequenced. A novel mutation, a 26 base-pair deletion in three brothers and a carrier mother, was detected in one family. A splicing mutation with one base pair insertion and a five base-pair deletion, which have been described previously, were found in the second and third families, respectively. The additional novel mutation detected and the findings of three different mutations in these three families support the idea of genetic heterogeneity of Emery-Dreifuss muscular dystrophy with different mutations in different families.
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PMID:Mutation analysis in Emery-Dreifuss muscular dystrophy. 1042 30

Emerin encoded by the STA gene is the first nuclear protein linked with a muscular dystrophy. Emerin is a 34 kDa, predominantly hydrophilic protein with a single hydrophobic region supposed to serve as a transmembrane domain. It was classified as a type II integral membrane protein localized at the inner nuclear membrane/nuclear lamina with an ubiquitous tissue distribution. It is speculated that emerin is required for the stability and normal function of rigorously moving nuclei in skeletal muscle and heart. During mitosis, emerin is cell-cycle-dependent phosphorylated and shows stage-dependent changes in distribution and localization suggesting that it plays a role in re-assembly of nuclear membranes. Mutations of the emerin gene have been associated with X-linked Emery-Dreifuss muscular dystrophy clinically defined by early joint contractures, progressive muscle weakness, and cardiomyopathy. Hopefully, identification of the protein defect may promote new therapeutic strategies concerning muscle fiber development and stability.
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PMID:Emerin. 1053 81

In moyamoya disease, progression of carotid occlusive lesion in an adult patient is very rare. We report a case of adult moyamoya disease with acute angiographical stage progression and hemodynamic deterioration. A 56-year-old female complaining of left motor weakness visited our department. On MRI, infarct lesion was found in the right white matter. On cerebral angiography, occlusive lesions in the bilateral internal carotid arterial siphons and moyamoya vessels were found. The right side was stage V and the left side was stage III. On IMP-SPECT, decreased cerebral hemodynamic reserve of the right cerebral hemisphere was found. In this patient, right STA-MCA anastomosis was performed. After operation, she became possible to walk and discharged to home. Five months after operation, good collateral formation and improvement of hemodynamic reserve in the right hemisphere were found. However, on left carotid arteriography, the anterior and middle cerebral arteries were only slightly imaged, and the disease state progressed to stage IV. In addition, decreased blood flow and hemodynamic reserve were appeared in the left hemisphere.
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PMID:A case of adult moyamoya disease showing progressive angiopathy on cerebral angiography. 1053 11

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive or autosomal dominant progressive muscular dystrophy characterized by progressive muscle wasting and weakness with scapulo-humero-peroneal distribution, early contracture and cardiomyopathy with conduction block. The responsible gene for EDMD, designated as 'STA', has been mapped to Xq 28 and cloned. It encodes a serine-rich protein of 254-amino-acid, called 'emerin', localized in the inner nuclear rim. We performed genetic analysis of a 23-year-old male clinically diagnosed as EDMD and found a novel point mutation. Total RNA was extracted from skeletal muscle and reverse-transcription and polymerase chain reaction amplification was performed using a set of oligonucleotide primers between 5'-flanking site of exon 1 and exon 4. Our patient gave a smaller PCR product (about 30 bp) than normal control. The determined cDNA sequence revealed a deletion of 29 bp, spanning position 164 to 192 in exon 1. To clarify the mutant allele, we performed genomic DNA sequence. Genomic DNA sequence from the initiation of exon 1 to the upstream lesion of exon 2 confirmed a novel point mutation G to C, at nucleotide 197 in the donor splice site of intron 1. This point mutation may interfere with the correct splicing of the mRNA and cause frameshift, resulted in truncation of predicted protein by premature stop. We report a novel point mutation G to C, at nucleotide 197 in the intron 1 of STA gene corresponding the truncation of predicted protein, which differs from any of the previously reported mutations.
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PMID:[A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy]. 1068 37

Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28, for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated 'emerin', and in almost all cases on immunostaining is absent in muscle, skin fibroblasts, leucocytes and even exfoliative buccal cells, and a mosaic pattern in female carriers. The gene, LMNA at 1q21, for the autosomal dominant Emery-Dreifuss muscular dystrophy encodes other nuclear membrane proteins, lamins A/C. The diagnosis (at present) depends on mutation analysis rather than protein immunohistochemistry. It is still not at all clear how defects in these nuclear membrane proteins are related to the phenotype, even less clear that LMNA mutations can also be associated with familial dilated cardiomyopathy with no weakness, and even familial partial lipodystrophy with diabetes mellitus and coronary heart disease! What began as clinical studies in a relatively rare form of dystrophy has progressed to detailed research into the functions of nuclear membrane proteins particularly in regard to various forms of heart disease.
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PMID:Emery-Dreifuss muscular dystrophy - a 40 year retrospective. 1083 46


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