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muscular dystrophies/seizures
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Sida 1 från 99 resultat
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
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Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder prevalent in Japan, characterized by cobblestone lissencephaly and dystrophic changes in skeletal muscle, resulting in mental retardation, epilepsy and motor impairment. FCMD patients in Japan carry at least one
[A case of Duchenne muscular dystrophy showing coagulation cascade activation induced by muscle destruction due to convulsion].
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A male patient with advanced Duchenne muscular dystrophy (DMD) had tonic-clonic convulsion. He showed transient elevations of serum creatine kinase (CK) and plasma D-dimer. Serum CK, ordinarily 122-386 IU/l, was elevated to 9,262 IU/l, while plasma D-dimer, below 66 ng/ml in normal subjects, was at
Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy.
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Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder prevalent in Japan that is characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress
[Morphological studies in progressive muscular dystrophy with fibrillary convulsions].
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[A CONTRIBUTION TO HEREDITARY FACTORS IN PROGRESSIVE MUSCULAR DYSTROPHY AND PREDISPOSITION TO CONVULSIONS].
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Abnormal kainic acid receptor density and reduced seizure susceptibility in dystrophin-deficient mdx mice.
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Duchenne muscular dystrophy is characterized by a defect in dystrophin, which often causes mental retardation in addition to progressive muscular weakness. As dystrophin is localized in synaptic regions of the CNS, cognitive abnormalities associated with Duchenne muscular dystrophy are attributable
[Myotonic seizures; the action of curare or related compounds on myotonia (author's transl)].
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Myotonic seizures with apnea are alarming but temporary incidents occurring during curaization of a myotonic patient. Experience with regional curaization in myotonia shows that it is induced only by suxamethonium and it is only an exaggeration of the fasciculations produced by this compound. In
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.
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Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counseling.
Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy.
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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
[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].
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Fukuyama congenital muscular dystrophy (FCMD), the second most common muscular dystrophy in the Japanese population, is an autosomal recessive disorder caused by mutations in the fukutin (FKTN) gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle
[Changes in the clinical picture of Fukuyama type. Congenital muscular dystrophy in its advanced stage: effectiveness of mechanical ventilation systems].
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We studied the clinical courses of Fukuyama type congenital muscular dystrophy (FCMD) based on a long-term follow-up of 7 patients. Their peak motor function varied from controlling the head incompletely to standing with support. Six patients had epilepsy, which in some cases was diagnosed with
Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.
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BACKGROUND
We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy (FCMD). He is the first case report in the Japanese population living in Brazil.
METHODS
The child presented with neonatal hypotonia,
[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy].
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We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of
[Dystrophinopathy and Seizure].
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Dystrophinopathy is associated strongly with central nervous system manifestation. It has been reported that 4%-15% of patients with dystrophinopathy have febrile seizure, and 2%-12% have epilepsy. In our study, 8% of patients had febrile seizure, and it was more common in patients with mutations
Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
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We report a two-year-old Caucasian boy who had neonatal seizures and was found to have bilateral occipito-temporal polymicrogyria on neonatal brain MRI. The child had no additional neurological abnormality other than the neonatal seizures, but serum CK was found to be elevated (5 - 7 times normal
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