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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, inherited autosomal-recessively, is characterized by muscular dystrophy associated with severe mental retardation and epileptic convulsions. By examining 56 cases, followed for more than three years, 75 EEG records from 40 patients and visual evoked potentials from 11 patients with reference to autopsied materials, the authors aimed at clarifying the causative relationship between congenital central nervous system (CNS) lesions and childhood epilepsy. In 36 out of 56 cases diffuse epileptic seizures were observed with onset at 1.64 +/- 1.01 years average. In 32/36 cases seizures developed before 3 years of age. In 51/75 EEGs focal paroxysmal discharges (FPD), fronto-contro-parietal in younger and centro-occipital in older cases, were observed. Abnormal basic activities (ABA), diffuse-alpha-activity and/or abundant or extreme spindles, were observed more often in older than younger cases. The incidence of FPD was similar between convulsive and non-convulsive cases, but ABA predominated in the former, VEP revealed abnormal findings in 64% of 11 cases examined. Of the CNS pathology, consisting of cerebral and cerebellar gyral abnormalities and a hypoplastic corticospinal tract, the gyral lesions (verrucous polymicrogyria with adhesions of adjacent gyri and cellular disarrangement) were thought to be lesions causing epilepsy. Cortical nonprogressive gyral lesions occurring around the second trimester could cause FPD and clinical diffuse epileptic seizures develop with other factors concerned with ABA.
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PMID:Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy. 12 66

Under ether anesthesia electrocardiograms were derived from Syrian hamsters (strain BIO 8262) suffering from cardiomyopathy and muscular dystrophy. In addition, ventricular weights and body weight were determined. Young hamsters -- not yet showing morphological signs of the cardiomyopathy with the exception of possible left ventricular hypertrophy -- demonstrated only a longer ventricular activation time than normal hamsters. With the onset of cardiac necrotization left axis deviation in frontal plane projection and right bundle branch blocks are developing in the cardiomyopathic hamsters followed by first degree atrioventricular conduction defects. During the late stage of the cardiomyopathy left bundle branch blocks are additionally arising, while left ventricular hypertrophy is disappearing. Since no overt heart failure is occurring in this strain of cardiomyopathic hamsters, gradual development of high degree conduction defects is assumed to terminate their lives. The electrocardiographic pattern of the hamster cardiomyopathy fits partly into that of human primary as well as secondary cardiomyopathy. Nevertheless, it seems to form an entity of its own, as arrhythmias, higher degree atrioventricular conduction disturbances, typical signs of ventricular or septal hypertrophy, abnormal P and Q waves, ST segment and T wave changes are lacking.
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PMID:Electrocardiographic changes in cardiomyopathic Syrian hamsters (strain BIO 8262). 14 76

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

An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated serum CK and calf muscle hypertrophy, her muscle was biopsied and she was diagnosed as having female DMD at the age of 5 years. She had generalized tonic-clonic convulsions and alternate hemiconvulsions for recent 4 years which brought her our hospital. On admission, she had mild generalized muscle atrophy and weakness predominantly in the proximal limbs. The lactate and pyruvate levels in both serum and cerebrospinal fluid were elevated, but with no metabolic acidosis. Serum CK was elevated to 4464 IU/L. Brain CT and MRI showed the expanding arachnoid cyst in the left middle fossa of cranium. In the biopsied left biceps crachii muscle, in addition to numerous ragged-red fibers, there were active muscular fiber necrosis and regeneration and interstitial fibrosis similar to those seen in progressive muscular dystrophy. Biochemically, no decrease or defect in the respiratory chain enzymes was detected. On electron microscopy, a large number of fibers contained aggregates of giant mitochondria with proliferated complicated cristae. Scattered throughout were necrotic muscle fibers filled with phagocytes and regenerating fibers. This patient had the diagnostic features of mitochondrial encephalomyopathy and progressive muscular dystrophy. We supposed that the patient provided very interesting evidences to study the relationship between mitochondrial myopathy and progressive muscular dystrophy.
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PMID:[A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers]. 238 14

A 9-year-old Japanese boy with congenital muscular dystrophy (CMD) with normal intelligence was presented. He was extremely floppy and had joint contractures since birth. Motor milestones were delayed and he did not learn to walk alone. Intellectual development was normal and no convulsions were observed. On physical examination at 9 years old, he had diffuse muscle weakness and atrophy and flexion contractures of joints. Creatine kinase was normal and IQ was 95. Biopsied muscle showed myopathic changes consistent with muscular dystrophy. CT scans of the head revealed diffuse low density area in the white matter of the cerebrum. These findings suggest central nervous system involvement in CMD is not confined to Fukuyama-type CMD.
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PMID:Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images. 366 12

Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan.
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PMID:Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). 631 92

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

A preliminary study of nuclear magnetic resonance imaging of the brains of four normal children (36 weeks' postmenstrual age to 5 years) showed long T(1) areas in the periventricular region of the neonate as well as evidence of progressive myelinisation with increasing age. Study of 18 patients of 40 weeks' postmenstrual age to 4 years showed an apparent deficit in myelinisation in an infant with probable rubella embryopathy and another with ventricular dilatation of unknown cause. Abnormal scans were obtained in an infant with congenital muscular dystrophy, and abnormalities were visualised at the lateral ventricular margins in a case of acute hydrocephalus after shunt blockage. Periventricular regions of increased T(2) were seen in a term infant aged 4 days after severe birth asphyxia and convulsions.Nuclear magnetic resonance imaging appears to provide a unique demonstration of myelinisation in vivo and shows changes in pathological processes of importance in paediatric practice.
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PMID:Nuclear magnetic resonance imaging of the brain in children. 681 Sep 94

A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively. Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric, neocortex, a bridge of grey matter linking the cerebral hemispheres before and over the lateral ventricles, neocortical dysplasia with subcortical neuronal heterotopic masses, generalized white matter gliosis, also involving the long fibre tracts and generalized vascular proliferation. The cerebellum showed generalized polymicrogyria. Also true hydrocephalus was found presumably related to a malformed aqueduct. Muscle biopsy revealed severe changes, consistent with congenital muscular dystrophy. Representative sections from the girls autopsy revealed an identical pattern of abnormalities. The described pattern fits descriptions of Fukuyama's cerebromuscular dystrophy.
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PMID:Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. 689 37

We have confirmed that the loss of muscle strength in 12 boys with Duchenne's muscular dystrophy, as measured by manual muscle testing, approximates a linear decay model, but we have also found that it fits as well a first order decay model. The strength in the same eight muscles was measured over time. Results of an analysis of 111 examinations are reported here. An arbitrary numerical scale for grading muscle strength was used, such that normal was 13 units, and no movement was zero. The maximal sum, if all 8 muscles were normal, would be 104 units. Pooling all measurements, the linear decay rate in this sum was -0.189 +/- 0.023 (estimate +/- standard error) arbitrary muscle strength units . month-1. The corresponding first order fractional decay rate was -0.0034 +/- 0.0004 month-1. However, a more detailed statistical analysis indicated that decay rates in muscle strength were not homogeneous, i.e. muscle strength decayed faster in some patients than others. The decay constants in 11 of the 12 subjects spanned a 10-fold range, and in one subject increased the spread to 40-fold. The distribution frequency of decay rates appears to be bimodal. In these assessments, the muscle strength at time zero was not known. Therefore, an estimate of muscle strength at 10 years was made. This varied from 34 to 71 units. The group mean was 53.0 units using the exponential model, i.e. on average, only 51% (= 53.0/104 X 100) of the normal muscle strength remained in the 8 muscle groups assessed at age 10 years. In conclusion, a quantitative characterization of muscle strength deterioration is reported, which emphasizes the heterogeneity in this disease. This approach may eventually allow quantitative distinctions between Duchenne's and Becker's varieties of muscular dystrophy.
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PMID:A statistical analysis of the loss of muscle strength in Duchenne's muscular dystrophy. 712 97


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