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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals. The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms. The age at onset and severity of the disease show extreme variation, both within and between families. Despite its clinical variability, this dominant condition segregates as a single locus at chromosome 19q13.3 in every population studied. It is flanked by the tightly linked genetic markers ERCC1 proximally and D19S51 distally; these define the DM critical region. We report the isolation of an expressed sequence from this region which detects a DNA fragment that is larger in affected individuals than in normal siblings or unaffected controls. The size of this fragment varies between affected siblings, and increases in size through generations in parallel with increasing severity of the disease. We postulate that this unstable DNA sequence is the molecular feature that underlies DM.
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PMID:Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. 134 23

To investigate the diagnostic validity of electromyography in the hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year period, were studied retrospectively. The diagnoses using clinical, muscle biopsy, and laboratory characteristics were: 25 central hypotonia, 20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy, four benign congenital hypotonia, two congenital muscular dystrophy, two myasthenia gravis, one infantile inflammatory myopathy, and one arthrogryposis multiplex congenita. Using strict criteria, electromyography accurately predicted the final diagnosis in 65% of infants with spinal muscular atrophy and was consistent with the diagnosis in another 25%. In contrast, electromyography accurately predicted the final diagnosis in only 10% of infants with myopathy and was normal in 88% of infants with central hypotonia. In infants with spinal muscular atrophy, there was no difference in the predictive value of electromyography when performed in the newborn compared to older infants. Normal distal nerve conduction velocities in infants with spinal muscular atrophy may predict prognosis, since these infants had a longer survival. Electromyography thus has a high predictive value for infantile spinal muscular atrophy but not for myopathy.
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PMID:Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant. 146 46

The gene for human apolipoprotein CII (APOCII) is located on the proximal long arm of chromosome 19. It has been established as a closely linked marker for myotonic dystrophy (DM), the most common form of adult muscular dystrophy. In the present linkage study, we have analysed 6 APOCII RFLPs in 213 haplotypes: TaqI, 3.8/3.5 kb; BgII, 12.0/9.0 kb; BanI, 2.5/1.6 kb; BamHI, 6.0/4.9 kb; NcoI, 14.5/11.5 kb, and AvaII, 0.6/0.4 kb. The polymorphic enzyme sites were determined to be present at the following frequencies: TaqI, 0.43; BglI, 0.51; BanI, 0.25; BamHI, 0.99; NcoI, 0.51, and AvaII, 0.52. Ordering of the polymorphic sites, 5'----3', has been determined to be (NcoI-BglI)-AvaII-BanI-TaqI. Significant disequilibrium was seen between 5 of the APOCII RFLPs.
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PMID:DNA polymorphism and linkage disequilibrium within the apolipoprotein CII locus on human chromosome 19. 168 38

There have been several reports concerning elevated glucose 6 phosphate dehydrogenase (G6PDH), the rate-limiting enzyme of pentose phosphate pathway (PPP), in experimental muscle disturbances. PPP produces ribose, a substrate of RNA, and NADPH which is a cofactor of fatty acid synthesis. PPP also has a role of by-path pathway of glycolysis. Then, we evaluated G6PDH activity and RNA content in biopsied quadriceps muscle. The subjects were muscles from 23 neurogenic amyotrophy, 54 myopathy including 19 progressive muscular dystrophy (PMD), and 10 controls whose muscle was obtained at orthopedic surgery. Neurogenic amyotrophy consisted of 12 amyotrophic lateral sclerosis (ALS), 4 spinal muscular atrophy and 7 peripheral nerve disorders. Myopathy were 3 Duchenne dystrophy, 2 congenital muscular dystrophy, 8 limb-girdle type dystrophy, 6 facio-scapular +-humeral muscular dystrophy, 6 myotonic dystrophy, 6 mitochondrial myopathy, 5 endocrinological myopathy, 3 hypokalemic myopathy, 8 polymyositis and 4 other inflammatory myopathy. The assays of G6PDH and RNA were performed after Glock's and Fleck's methods, respectively. The control values were 3.6 +/- 0.8 nmol formed NADPH/mg protein/min (M +/- SD) in G6PDH and 0.69 +/- 0.17 micrograms/mg non-collagen protein in RNA. Most cases of PMD, as well as some cases of ALS, hyperthyroidism, mitochondria hypokalemic myopathy, inflammatory myopathy showed increased values (beyond M + 2SD of control) both in G6PDH and RNA. There were significant positive correlations between G6PDH activity and RNA content in PMD and motor neuron disease. Myotonic dystrophy showed normal values in both G6PDH and RNA. Half number of cases of mitochondrial myopathy demonstrated increased G6PDH alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content]. 170 36

Subtraction hybridization techniques were used to isolate 91 cDNA clones which are overexpressed in normal control skeletal muscle relative to muscle from patients with myotonic muscular dystrophy. The gene responsible for myotonic dystrophy (DM) has been localized to the 19q13.2-13.3 region of chromosome 19. To test as a candidate gene for DM, clones which represent differences in transcription are analyzed for localization to chromosome 19. One clone, designated MSL 366, was found to be on the long arm of chromosome 19 distal to the CKMM gene at 19q13.2. Sequence analysis confirmed that MSL 366 is the cDNA for human slow skeletal muscle troponin T. A genomic clone has been isolated and linkage studies with DM are in progress.
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PMID:Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA. 170 83

We studied the prevalence of various types of progressive muscular dystrophy (PMD) in Okinawa, Japan on December 31, 1989 and the incidence of Duchenne muscular dystrophy (DMD) in 5-year periods from 1957 to 1985. We classified patients with PMD clinically, electrophysiologically, molecular biologically and immunohistochemically with antidystrophin antibody, especially for sporadic cases of DMD, Becker muscular dystrophy (BMD) and limb-girdle muscular dystrophy (LG). The prevalence for all PMD in Okinawa was 7.13 X 10(-5) for DMD, 1.82 X 10(-5) for BMD in the male population, 1.55 X 10(-5) for LG, 1.14 X 10(-5) for congenital muscular dystrophy, 2.03 X 10(-5) for facioscapulohumeral muscular dystrophy (FSH), and 9.13 X 10(-5) for myotonic dystrophy (MD) in the total population. The incidence of DMD in the period 1957-1985 was 15.41 X 10(-5) live-born males (LBM) and 3.21 X 10(-5) LBM for BMD. The incidence has apparently declined in Okinawa since 1975. The prevalence of BMD, FSH and MD was rather high in Okinawa compared with previous reports. Molecular biological techniques for classifying patients were indispensable for the epidemiological study of PMD.
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PMID:Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques. 174 28

Twenty patients with different types of muscular dystrophy (MD) were included in a cross-sectional study by means of electrocardiography and ultrasound cardiography. A manifest cardiomyopathy was detected in 8 patients; a latent cardiomyopathy was found in 4. A hypertrophic cardiomyopathy was especially frequent in facioscapulohumeral MD, a congestive cardiomyopathy in Becker-Kiener MD. The ECG showed a reduction in the QT interval and frequent block formers in the X-chromosomal inherited forms and the trunc-girdle form. Bradycardia and a prolonged QT interval were frequent in myotonic dystrophy and facioscapulohumeral MD. Signs of cardiac infarction in the ECG were most frequent in the trunc-girdle forms. A high cardiac output per minute in conjunction with increased left ventricular volume was frequent in Becker-Kiener and Landouzy MD. A left ventricular dysfunction with reduced ejection was characteristic of myotonic dystrophy and trunc-girdle MD. A mitral valve prolapse was more frequent with increasing severity of the muscle disease and was particularly frequent in myotonic dystrophic and Landouzy MD. The cardiac output per minute and the stroke volume were significantly lower (P less than or equal to 0.03) where a mitral valve prolapse was present.
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PMID:The heart in muscular dystrophy: an electrocardiographic and ultrasound study of 20 patients. 179 Jan 64

A survey of the world literature, involving over 150 reported studies, of the population frequencies of various inherited neuromuscular diseases has been carried out. Data are presented for the commoner forms of muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb girdle), myotonic dystrophy and congenital myotonias, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies. A conservative estimate of the overall prevalence among both sexes is around 286 x 10(-6), that is 1 in 3500 of the population may be expected to have a disabling inherited neuromuscular disease presenting in childhood or in later life. If severe disorders manifest only in infancy and early childhood (e.g. Werdnig-Hoffmann disease and severe congenital muscular dystrophy) and the rare forms of dystrophy and myopathy are also included, then the overall prevalence could well exceed 1 in 3000.
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PMID:Population frequencies of inherited neuromuscular diseases--a world survey. 182 74

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.
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PMID:Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. 189 62

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65


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