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

We have evaluated the CNS findings of 30 patients with congenital muscular dystrophy and normal mental development. The intelligence was estimated by psychological testing or school performance. There were more children of above average intelligence than expected. Neuroradiological examination was done to 15/17 patients still alive. White matter changes were seen in five and cerebral atrophy in four patients. Three patients had epilepsy, two mild, one drug resistant. The EEG did not reveal any common pattern, though there were various abnormalities in several children.
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PMID:CNS in congenital muscular dystrophy without mental retardation. 164 Oct 78

The typical form of congenital muscular dystrophy (CMD) described in Western countries is generally considered different from its Japanese variant because of the absence of CNS involvement. Evaluations from both a clinical and a neuroradiological point of view were made of the CNS functions of 12 unselected Western children affected by CMD. In five patients, clinical observation and intelligence tests showed a mild to severe mental retardation. One of these patients suffered also from a severe form of epilepsy. In the same five patients, various degrees of white matter hypodensity, ventricular enlargement and cerebral atrophy were also detected. Similar neuroradiological abnormalities were also found in five of the seven children who did not have clinical symptoms or signs of CNS involvement. In one of these cases, necropsy neuropathological examination showed the gyral anomalies characteristic of the Japanese type of CMD. This study clearly indicates the high frequency of subclinical CNS alterations in typical Western CMD, suggesting that it should be considered a type of myoencephalopathy like its Japanese counterpart.
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PMID:Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. 190 45

Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white matter, seen in 14 (56%) out of 25 cases. In Duchenne dystrophy, slight cerebral atrophy was observed in 20 (67%) out of 30 cases. It was interesting that in the case of Duchenne dystrophy the older the patient, the more severe were the CT findings. In congenital muscular dystrophy half the patients with a low density area showed a spike or a spike-and-wave complex in the electroencephalogram, and optic atrophy was evident in several cases. It is concluded that progressive muscular dystrophy is not only a myogenic disorder but also one which affects the central nervous system.
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PMID:Central nervous system involvement in progressive muscular dystrophy. 743 14

We studied 50 patients with the merosin-positive form of congenital muscular dystrophy (MP-CMD) clinically and pathologically. The frequency of MP-CMD in our laboratory was approximately one-half that of the Fukuyama type and one-sixth that of Duchenne muscular dystrophy. The early signs of MP-CMD included decreased fetal movement during pregnancy (14%) and poor suck (42%), floppiness (30%), and respiratory difficulty (16%) in early infancy. Eighty-six percent of the patients had delayed motor development. Ninety-two percent of the patients followed beyond age 4 years had learned to walk. The disease was relatively slowly progressive, except in six patients who rapidly lost ambulation. Almost all patients had normal IQ, except four who were mildly to moderately retarded. Of the patients examined by cranial CT/MRI, 24% showed cerebral atrophy and 11% had areas of white matter lucency. Muscle biopsy results in those younger than 5 years showed mild dystrophic changes consisting of variation in fiber size and scattered necrotic and regenerating fibers. In older children, there were additional chronic dystrophic changes, including fiber splitting (32%), moth-eaten appearance (32%), marked fatty replacement (46%), and abnormal fiber type distribution (59%). The manifestations of MP-CMD were generally milder and more slowly progressive than those of the Fukuyama type and merosin-negative form of congenital muscular dystrophy.
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PMID:Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. 861 89

We evaluated cranial CT findings of 160 patients with various type of progressive muscular dystrophy (PMD). Significant brain atrophy was observed in 21 out of 63 cases of Duchenne muscular dystrophy (DMD), 7 out of 15 Becker muscular dystrophy (BMD), no case of 2 female dystrophinopathy (F-dyst), 11 out of 21 limb-girdle muscular dystrophy (LG), all cases of 10 Fukuyama type congenital muscular dystrophy (FCMD), 2 out of 5 fascioscapulohumeral muscular dystrophy (FSH), and 32 out of 44 myotonic dystrophy (MyD). Genetical degenerative process and vascular insufficiency seemed to cause brain atrophy in these disease. The intracranial calcification was observed in one DMD, one LG and seven MyD. One LG patient showed focal atrophy in left temporal lobe, and one MyD demonstrated right temporal meningioma. The trace of cerebral vascular accident was disclosed in eleven patients with PMD (1 DMD, 2 BMD, 1 F-dyst, 2 LG, 5 MyD). In these cases, 2 patients had dilated cardiomyopathy, 6 patients with decreased left ventricular ejection fraction, 3 with atrial fibrillation, 1 with cardiac arrest followed by pacemaker instillation, 1 with Adam-Stokes attack, and 3 with 1 degree AV-block. Diffuse low density in the white matter was seen in a patient with F-dyst, a FCMD patient, and 8 MyD patients. Cardiac emobolism, severe arrythmia, cardiogenic shock and hemodynamic disorder were seemed to cause cerebral vascular disease in PMD.
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PMID:[Evaluation of cranial CT findings of patients with muscular dystrophy: with a reference to cerebral vascular disease and cardiac complications]. 1045 50

A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic grounds for identifying new subsets of congenital muscular dystrophy.
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PMID:Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases. 1075 73

Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.
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PMID:Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 1917 78

Significance: Generalized selenoprotein deficiency has been associated with mutations in SECISBP2, SEPSECS, and TRU-TCA1-1, 3 factors that are crucial for incorporation of the amino acid selenocysteine (Sec) into at least 25 human selenoproteins. SECISBP2 and TRU-TCA1-1 defects are characterized by a multisystem phenotype due to deficiencies of antioxidant and tissue-specific selenoproteins, together with abnormal thyroid hormone levels reflecting impaired hormone metabolism by deiodinase selenoenzymes. SEPSECS mutations are associated with a predominantly neurological phenotype with progressive cerebello-cerebral atrophy. Recent Advances: The recent identification of individuals with defects in genes encoding components of the selenocysteine insertion pathway has delineated complex and multisystem disorders, reflecting a lack of selenoproteins in specific tissues, oxidative damage due to lack of oxidoreductase-active selenoproteins and other pathways whose nature is unclear. Critical Issues: Abnormal thyroid hormone metabolism in patients can be corrected by triiodothyronine (T3) treatment. No specific therapies for other phenotypes (muscular dystrophy, male infertility, hearing loss, neurodegeneration) exist as yet, but their severity often requires supportive medical intervention. Future Directions: These disorders provide unique insights into the role of selenoproteins in humans. The long-term consequences of reduced cellular antioxidant capacity remain unknown, and future surveillance of patients may reveal time-dependent phenotypes (e.g., neoplasia, aging) or consequences of deficiency of selenoproteins whose function remains to be elucidated. The role of antioxidant therapies requires evaluation. Antioxid. Redox Signal. 33, 481-497.
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PMID:Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency. 3229 91