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

The authors report a case with Fukuyama type congenital muscular dystrophy (FCMD) and severe ocular abnormalities. Muscular dystrophy was confirmed by EMG, high muscle enzyme value and muscular biopsy. Computed tomography (CT) of the brain at 15 months of life showed mild central and cortical atrophy. Repeated CT scans at 22 and 32 months showed progressive character of the atrophy, with preservation of the cerebellar areas and the central grey matter only. Ophthalmologist examination revealed nystagmus, severe visual deficit, optic nerve atrophy and irregular color of the retina, especially in the peripheric areas. Electroretinography (ERG) was normal, cortically evoked visual responses (PEV) were absent. The association of congenital muscular dystrophy with brain changes and ocular abnormalities were found in FCMD, muscle-eye-brain disease (MEB) and Walker-Walburg syndrome (WWS). Our report, according to the recent literature, suggests that ocular lesions are caused by the same mechanism that provokes the central nervous system anomalies. It is probably of genetic origin: FCMD, MEB and WWS could be development abnormalities with a continual spectrum of disease severity.
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PMID:[Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies]. 150 60

Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle enzyme levels and age and CT numbers of muscle and age, are presented. Skeletal muscle histopathology is reviewed. Febrile illness-induced transient exacerbation of muscle weakness is reported. Characteristic brain malformations, e.g. micropolygyria, other dysgenesis, are reviewed. Their severity correlated with maximal mental and motor function. The etiology and significance of low density areas (LDA) in white matter on CT, possibly reflecting delayed or abnormal myelination, and ventricular dilatation are discussed. Spontaneous LDA improvement makes hydrocephaly unlikely. Ophthalmological differential diagnosis from Santavouri disease and Walker-Warburg syndrome, characterized by visual disturbance/glaucoma and microphthalmia/anterior chamber defects, respectively, is discussed. A single defective gene, manifesting as a metabolic error, may produce CNS and ocular defects as well as muscle degeneration in FCMD.
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PMID:Fukuyama type congenital progressive muscular dystrophy. 195 53

We evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles]. 198 Jun 44

We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. Retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and Walker-Warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.
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PMID:Ocular manifestations in Fukuyama type congenital muscular dystrophy. 224 Apr 63

We examined serum cardiac myosin light chain I (LCI), serum creatine kinase (CK) levels and left ventricular function in patients with muscular dystrophy and secondary cardiac involvement. LCI levels were determined by a two-site immunoradiometric assay method in 25 patients with muscular dystrophy and 10 normal subjects. This study included 15 patients with Duchenne muscular dystrophy (DMD), 8 patients with Fukuyama type congenital muscular dystrophy (FCMD) and 2 sisters with non-Fukuyama type congenital muscular dystrophy (nFCMD). We measured the value of left ventricular fractional shortening (FS) using echocardiography. All patients with DMD and FCMD showed moderate or severe skeletal muscle weakness. The mean values of LCI were significantly higher in patients with DMD (11.0 +/- 8.3 ng/ml, p less than 0.01) and in patients with FCMD (1.6 +/- 1.4 ng/ml, p less than 0.05) than in normal subjects (0.3 +/- 0.2 ng/ml). In patients with DMD, LCI level correlated closely with CK level (r = 0.81, p less than 0.01) but not with FS (r = 0.35, n.s.). In patients with FCMD, LCI level correlated significantly with CK level (r = 0.75, p less than 0.05) but not with FS (r = 0.44, n.s.). Close correlation between LCI and CK levels was thought to result from the cross reaction between cardiac LCI and myosin light chains of skeletal muscle in the assay method we used. Two siblings with nFCMD showed mild skeletal muscle weakness. A 22-year-old sister with mild left ventricular dysfunction (FS = 0.41) showed high level of CK (4794/U/L) and mild elevation of LCI (7.3 ngml).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical significance of serum cardiac myosin light chain I in patients with muscular dystrophy]. 225 17

In Fukuyama type congenital muscular dystrophy (FCMD), congenital muscular dystrophy and anomalies of the central nervous system are regarded as the major features, but the existence of ocular lesions has hardly been recognized as being important. In the present study, close ophthalmologic examinations were performed on 11 patients with FCMD, and we found myopia, weakness of the orbicularis oculi, congenital nystagmus, cortical blindness, optic atrophy, chorioretinal degeneration, etc. In particular, the chorioretinal degeneration observed in the ocular fundus was considered to be specific to FCMD. It is thought that these ocular lesions or changes are caused by the same mechanism as that involved in the central nervous system anomalies.
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PMID:Ocular findings in Fukuyama type congenital muscular dystrophy. 261 65

Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presented with congenital hypotonia and muscle weakness. Serum CK was elevated, EMG was myopathic and muscle biopsy showed slight or moderate changes compatible with muscular dystrophy. Ophthalmological findings included severe visual failure and uncontrolled eye movements associated with severe myopia. The flash VEPs were exceptionally high, whereas non-corneal ERG was unrecordable. The EEG showed progressive abnormalities after the age of 6 months. Psychomotor development was slow during the first years of life, and mental retardation was severe. Most patients began to deteriorate around age 5 years. This change included spasticity and joint contractures. CT scans showed ventricular dilatations and abnormally low white matter density in several patients. Spasticity, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy.
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PMID:Muscle-eye-brain disease (MEB) 236 Jul 4

Sixty-two computed tomographic (CT) scans of 36 patients with congenital muscular dystrophy of Fukuyama type (FCMD) were analysed. A low density area in the cerebral white matter was characteristic of FCMD and a special reference was made to the changes in the white matter low density. It was present in 15 patients out of 36 (42%) and frequently seen in the scans obtained on the younger patients; among 11 scans taken of patients between 1 and 2 years of age, 10 scans (91%) showed the white matter low density. Repeated CT scans were carried out on 26 of the 36 cases. Follow-up study revealed that the white matter low density areas were most apparent around the age of one year and decreased or disappeared at 2 or 3 years of age. From these observations, delayed myelination was suspected for the pathogenesis of the low density area found in FCMD.
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PMID:Congenital muscular dystrophy (Fukuyama type)--changes in the white matter low density on CT. 336 69

Two 10-year-old boys with mental retardation and myopathy which were present since birth are described. Both had elevated serum creatine phosphokinase (CK) and one of them had a positive family history. The clinical features were consistent with Fukuyama type congenital muscular dystrophy, but muscle biopsies suggested an inflammatory process. Adrenal cortical steroids were given and they were followed up until 10 years of age. Serum CK showed a significant response to the treatment, and mental retardation in case 1 and motor dysfunction in case 2 improved. It is postulated that an inflammatory process might be a causative factor in some patients with congenital muscular dystrophy.
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PMID:Ten years follow up study of steroid therapy for congenital encephalomyopathy. 376 4

We studied the histochemical staining and biochemical activity of AMP deaminase in biopsied muscle in Becker-type muscular dystrophy (BMD), Fukuyama-type congenital muscular dystrophy (FCMD), Duchenne-type muscular dystrophy (DMD), Werdnig-Hoffmann disease (WH) in order to elucidate the change of AMP deaminase activity in muscle with neuromuscular disorders in childhood. The intensity of AMP deaminase staining did not decrease in BMD with mild pathologic change, but in DMD, FCMD and WH it decreased in parallel with the severity of the pathologic change. The biochemical activity of AMP deaminase did not decrease in muscle with mild pathologic change in patients with DMD and tended to decrease according to the progress of the disease. The activity of AMP deaminase in muscle of patients with FCMD and WH which showed severe pathologic change was remarkably low. It was demonstrated that the decrease in the activity of AMP deaminase was related to the intensity of pathologic change rather than diagnosis of a neuromuscular disorder.
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PMID:AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies. 380 28


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