Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multicore myopathy is a rare congenital myopathy. The multicores consist of numerous small areas of decreased oxidative enzyme activity. The long axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. These cores are usually smaller than central cores. For this reason they are also called minicores. Although the multicores represent a nonspecific change in that they can be observed in malignant hyperthermia, muscular dystrophy, inflammatory myopathy, etc. Muscular weakness dating from early infancy is combined large proportion of the muscle fibers. In about half of the reported cases the muscular weakness has not been progressive, while in the others a slow progression has occurred. This 9-year-old boy presented with congenital nonprogressive myopathy associated with thoracic scoliosis and bilateral equinovarus deformity. The serum creatine phosphokinase and lactic dehydrogenase levels were normal. Electromyography showed "myopathic" features. The biopsy revealed a marked size variation in myofibers, ranging from 10 microns to 100 microns. A few small angular fibers and slight endomyseal fibrosis were also noted. There was type I fiber predominance. NADH-TR reaction disclosed more well-defined cores with loss of intermyofibrillary mitochondrial activity. These cores were usually located with loss of intermyofibrillary mitochondrial activity. These cores were usually located in the peripheral portions of the myofibers and the core size measured 10-30 microns in diameter. Electron microscopic examination revealed circumscribed areas of disintegrated Z band material and disorganized sarcomeric units near the sarcolemma. A decrease in the number of mitochondria and glycogen particles was noted.
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PMID:Multicore myopathy--a case report. 819 69

Multi-minicore disease (MmD) is a congenital myopathy morphologically defined by the presence of multiple small zones of sarcomeric disorganization and lack of oxidative activity ("minicores") in muscle fibers. The dinical expression of MmD is considered to be greatly variable, and the morphological lesions are nonspecific; therefore, its boundaries are poorly defined, and its molecular bases are not known. To better define the phenotypic characteristics of MmD, we analyzed a large series of 38 patients with multiple minicores in muscle fibers in the absence of any other potential cause. According to clinical features, 4 subgroups were identified. Most patients (30 cases) shared a common highly consistent phenotype marked by the axial predominance of muscle weakness and a high occurrence of severe respiratory insufficiency and scoliosis ("classical" form). Other forms were characterized by pharyngolaryngeal involvement and total lack of head control (2 cases), antenatal onset with arthrogryposis (3 cases), and slowly progressive weakness with marked hand amyotrophy (3 cases). Type 1 fiber predominance and hypotrophy as well as centrally located nuclei were found in every subgroup. MmD is thus phenotypically heterogeneous, but a typical recognizable phenotype does exist. This phenotype classification should be helpful when undertaking research into the molecular defects that cause MmD.
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PMID:Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 1107 38

We report an African American female who is mosaic for partial trisomy of 1q due to a direct duplication of 1q12 to 1q25. The child has hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome. The physical features include micrognathia, cleft palate, low set ears, posteriorly placed thumbs, and syndactyly of the second and third toes of both feet. Other abnormalities include intestinal malrotation, scoliosis, mental retardation, cerebral palsy, and hydrocephalus. There was also a selective deficiency of antibody responses to polysaccharide antigens. Proximal duplication of chromosome 1q is rare and has not been previously associated with hypertrophic cardiomyopathy. Most known gene disorders related to hypertrophic cardiomyopathy are autosomal dominant missense mutations in sarcomeric protein genes; however, none of the sarcomeric genes previously linked to hypertrophic cardiomyopathy are in this region. This finding thus highlights the possibility of additional genetic mechanisms for hypertrophic cardiomyopathy.
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PMID:Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies. 1134 16

We describe a new autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large and highly inbred Arab community. Characteristic clinical features include mild facial and skeletal muscle weakness and atrophy more pronounced proximally in the upper limbs, facial dysmorphism and scoliosis associated with conjugate, non-restrictive ocular motility impairment greatest in the upgaze and without ptosis or aberrant eye movements. Orbital MRI in the patients demonstrated atrophy with fatty replacement of the oculorotatory muscles. The major pathological alteration on skeletal muscle biopsy was a marked type 1 fibre predominance with core-like formations. A genome wide search for regions of homozygosity in the affected members from two informative families identified linkage with chromosome 17p13.1-p12 markers. Maximum two-point logarithm of odds scores were obtained at loci D17S1803 and AFMA070WD1 (Zmax = 3.74 at = 0). Two independent recombination events at D17S1812 and D17S947 further defined a critical region of 12 cM. Several genes map to this interval, including a cluster of sarcomeric myosin heavy chain genes. One of these genes, MYH2, is involved in inclusion body myopathy 3, but no exonic mutations were found by direct sequencing. The molecular basis for this new myopathy remains to be identified.
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PMID:A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. 1554 56

Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type 1 and type 2 fibers. Most cases of multiminicore disease typically present with early-onset axial weakness, respiratory insufficiency, scoliosis, and rigid spine. There is no correlation between the frequency of minicores and clinical severity. Multiminicore disease is genetically heterogeneous and can result from recessive or dominant mutations. Genetic testing is needed to establish the precise diagnosis and provide overall prognosis. Here we report a 23-year-old woman with respiratory failure, distal joint hyper-laxity, scoliosis and rigid spine due to multiminicore disease caused by a novel compound heterozygous mutation in the selenoprotein N1-encoding gene (SELN). The preserved ambulation into adulthood and normal creatinine kinase (CK) favor the diagnosis of congenital myopathy over congenital muscular dystrophy (CMD). However, the nonspecific myopathic histopathological changes and extremely rare minicore-like structures can make it challenging to differentiate between SELN-myopathy and congenital muscular dystrophies, such as Ullrich or lamin A/C-CMD.
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PMID:Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. 3061 14