Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with brain anomalies. After our initial mapping of the FCMD locus to chromosome 9q31-33, we have further defined the locus within a approximately 5-cM region between D9S127 and D9S2111 and have found linkage disequilibrium between FCMD and D9S306 in this candidate region on 9q31. The high prevalence of FCMD among the Japanese, who are a relatively isolated population, provides an opportunity to utilize linkage-disequilibrium mapping. We developed three new microsatellites, near D9S306, from the FCMD YAC contig, determined their positions on YACs, and performed linkage-disequilibrium mapping with these markers and other newly published loci. The maximum value of p(excess), which represents the strength of linkage disequilibrium, was obtained at D9S2107; and this value showed a relatively steady rise and fall across the region that is likely to contain FCMD. Distances between FCMD and each marker were presumed to be approximately 1 Mb, approximately 350 kb, approximately 140 kb, approximately 20 kb, approximately 280 kb, approximately 450 kb, and approximately 740 kb for D9S306, A107XF9, D9S2105, D9S2107, D9S172, D9S299, and D9S2109, respectively. Haplotype analysis using the three closest markers D9S2105, D9S2107, and D9S172 indicated that most FCMD-bearing chromosomes are derived from a single ancestral founder and suggested that these markers can be used for the diagnosis of sporadic FCMD. Thus, the FCMD gene is most likely to lie within a region of <100 kb containing D9S2107.
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PMID:Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. 894 Feb 77

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by a combination of primary muscular dystrophy of early infantile onset and brain malformation (lissencephaly type II). The identification of the FCMD gene locus at 9q31 opened the theoretical possibility of prenatal diagnosis. The authors conducted prenatal diagnosis in two unrelated FCMD families by analysis using nine microsatellite CA-repeat polymorphic markers flanking the FCMD locus, and calculated phenotype probabilities in fetuses with a computer program, LINKAGE. The fetus in family 1 showed a 99% probability of being healthy either as a normal homozygote or a heterozygote carrier and was born without signs of FCMD. In family 2, the fetus was diagnosed to have FCMD with at least 86% probability. The parents of this family decided to terminate the pregnancy and an abortus showed brain malformations characteristic of an FCMD fetus.
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PMID:Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. 895 24

We have observed sudden clinical death due to Fukuyama-type congenital muscular dystrophy (FCMD). In FCMD, brain abnormalities, such as polymicrogyria, leptomeningeal neuroglial heterotopia and abnormal course of the corticospinal tracts, are well known. We investigated the brainstem of 10 FCMD and 7 control cases. Among the control cases, 5 with Duchenne type muscular dystrophy died of heart failure and 2 died accidental death. In the brainstem, the catecholaminergic neurons characterized by reaction with antiserum to tyrosin hydroxylase showed notable reduction in the reticular formation, vagal nuclei, and nucleus tractus solitarius. Delays or aberrations of neural control may contribute to the pathogenesis of sudden infant death syndrome, and medullary gliosis occurs in the reticular formation of sudden infant death syndrome. The pathogenesis of neurons in the brainstem in FCMD may be similar to that in sudden infant death syndrome. These findings suggest neuronal dysfunction in the brainstem and may be related to respiratory, circulatory, or sleep-wake regulation disorders.
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PMID:Morphological study of the brainstem in Fukuyama type congenital muscular dystrophy. 897 33

Non-Fukuyama type congenital muscular dystrophy (n-FCMD), a subtype of progressive muscular dystrophy (PMD), is a very rare autosomal recessive disorder. N-FCMD is characterized by severe and progressive motor weakness and atrophies of proximal muscles during the infant period. A 9-year-old boy with n-FCMD underwent elective surgery for muscle release around the hip joints bilaterally. As many perioperative complications related with volatile anesthetics and muscle relaxants had been reported in the anesthetic management of PMD, these drugs were thought to be contraindicated in patients with n-FCMD. Because n-FCMD seemed to have very similar pathogenesis with PMD, caudal epidural block was chosen, supplemented with the administration of diazepam, pentazocine and nitrous oxide. The operation and anesthesia were conducted uneventfully. No complications occurred postoperatively.
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PMID:[Anesthetic management of a pediatric patient with non-Fukuyama type congenital muscular dystrophy]. 902 88

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with brain malformation. The gene responsible for FCMD was mapped to chromosome 9q31, a region in which convincing evidence of strong linkage disequilibrium between FCMD and mfd220 (D9S306) was recently found. FCMD is also characterized clinically by a peak motor function which, at best, allows patients to sit unassisted or slide on the buttocks. However, a small fraction of patients acquire the capacity to walk unassisted. Whether such ambulant cases belong to the FCMD spectrum or to a different disease entity has been a topic of considerable debate. We performed linkage analysis for ten families with ambulant cases using DNA markers flanking the FCMD locus. The mfd220 locus yielded a significant lod score of 3.09 for ambulant FCMD. We also found evidence for linkage disequilibrium between ambulant FCMD and mfd220. We further conducted haplotype analysis in FCMD siblings with different phenotypes, one of whom was ambulant while the other was not. The results indicate that the FCMD siblings share exactly the same haplotype at nine marker loci spanning 23.3 cM surrounding the FCMD locus. On the basis of these results, we conclude that, genetically, ambulant cases are, in fact, part of the FCMD spectrum.
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PMID:Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. 909 29

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. We had mapped the FCMD gene to an approximately 5-cM interval between D9S127 and D9S2111 on 9q31-q33 and had also found evidence for linkage disequilibrium between FCMD and D9S306 in this candidate region. Through further analysis, we have defined another marker, D9S172, which showed stronger linkage disequilibrium than D9S306. A yeast artificial chromosome (YAC) contig spanning 3,5 Mb, which includes this D9S306-D9S172 interval on 9q31, has been constructed by a combination of sequence-tagged site, Alu-PCR, and restriction mapping. Also, cosmid clones subcloned from the YAC were assembled into three contigs, one of which contains D9S2107, which showed the strongest linkage disequilibrium with FCMD. These contigs also allowed us to order the markers as follows: cen-D9S127-(approximately 800 kb)-D9S306 (identical to D9S53)-(approximately 700 kb)-A107XF9-(approximately 500 kb)-D9S172-(approximately 30 kb)-D9S299 (identical to D9S774)-(approximately 120 kb)-WI2269-tel. Thus, we have constructed the first high-resolution physical map of the FCMD candidate region. The YAC and cosmid contigs established here will be a crucial resource for identification of the FCMD gene and other genes in this region.
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PMID:YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. 911 96

Peak motor function in Fukuyama type congenital muscular dystrophy (FCMD) is generally considered to be no better than sitting without help or sliding on the buttocks. There are a few patients who acquire the ability to stand and a small fraction of our total congenital muscular dystrophy (CMD) population are able to walk at some point. These ambulant cases may reflect a broad spectrum of motor disabilities in the category of FCMD, or may represent another CMD entity, which closely resembles but is distinct from FCMD. Since the localization of the FCMD gene to chromosome 9q3 1 by Toda et al. in 1993 and 1994, polymorphism analysis of this disease has become possible. We describe correlations between clinical features and genetic analysis using microsatellite markers flanking the FCMD locus in two FCMD families each having two affected children with distinctly different motor abilities. The results demonstrate that two sets of FCMD siblings share exactly the same haplotype at nine marker loci spanning 23.3 cM, surrounding the FCMD locus. Our results provide genetic confirmation that some FCMD cases may acquire the ability to walk.
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PMID:Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes. 913 89

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with brain anomalies. After our initial mapping of FCMD to chromosome 9q31-33, we revealed that the gene lies within a region of < 100 kb containing D9S2107(9q31) by linkage-disequilibrium mapping. A-3 kb insertion was found in most FCMD chromosomes with the founder haplotype. On the other hand, a significant reduction in immunostaining of an extracellular matrix, laminin alpha 2 (merosin) has been noted in the FCMD muscle. Others reported basal lamina abnormalities in the FCMD muscle and brain in electron microscopic examination. We here describe recent advances in molecular genetics of FCMD and abnormalities of the basement membranes.
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PMID:[Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)]. 943 30

The classical form of congenital muscular dystrophy (CMD) is now classified into merosin-deficient and -positive forms. The merosin (laminin alpha 2) is one of three subunits of a muscle basement membrane protein, laminin. Patients with the merosin-deficient form have generalized muscle weakness and hypotonia from early infancy as seen in FCMD but with no significant central nervous system involvement. The serum creatine kinase (CK) is markedly elevated. Strikingly all patients examined by a CT/ MRI have diffuse white matter abnormalities mimicking leukodystrophy. The gene has been mapped to chromosome 6q2 in the coding region for merosin. Since the responsible gene and protein have not been identified in the merosin-positive form, this CMD is probably a group of heterogeneous diseases. The overall symptoms are mild, approximately 90% of patients learned to walk alone.
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PMID:[Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms]. 943 31

We applied microsatellite analysis to prenatal diagnosis of Fukuyama-type congenital muscular dystrophy (FCMD), an autosomal recessive severe muscular dystrophy associated with brain malformations. Recent identification of the FCMD gene locus at 9q31-q33 provided the basis for prenatal diagnosis and carrier detection. We recently developed new microsatellite markers which are closer to the FCMD gene and improved the phenotype probability. Nine fetuses in eight unrelated FCMD families, including a twin pregnancy, were analysed using the newly developed markers. Four fetuses showed over 99% probability of being healthy either as normal homozygote (n = 1) or heterozygote carrier (n = 3) and were born without signs of FCMD. The other five fetuses were diagnosed with a probability of FCMD of 99% or greater; all of the latter parents decided to terminate the pregnancies. Brain malformations characteristic of FCMD in one of the aborted fetuses confirmed the diagnosis of FCMD at 19 weeks of gestation.
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PMID:Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. 955 30


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