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myotonic dystrophy/epileptische aanval
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Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.
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BACKGROUND
Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. Seizures are not a commonly associated neurological feature of this disorder.
METHODS
A 57-year-old white American man presented with a long history of clinical and
Proximal myotonic myopathy with MRI white matter abnormalities of the brain.
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Proximal myotonic myopathy (PROMM) is an autosomal dominantly inherited multisystemic disorder characterized by myotonia, proximal muscle weakness, and cataracts. This disorder is not linked to the gene locus of myotonic dystrophy (DM). We describe three new families with PROMM. In all patients, CTG
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
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Spinocerebellar ataxia type 10 (SCA10) is a dominantly inherited neurodegenerative disease caused by expansion of the ATTCT pentanucleotide repeat in intron 9 of a novel gene, ATXN10, on chromosome 22q13.3. It is clinically characterized by progressive ataxia, seizures, and anticipation, which can
New classification and treatment for myotonic disorders.
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Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy,
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
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Spinocerebellar ataxia type 10 (SCA10) is a dominantly inherited neurodegenerative disease caused by expansion of the ATTCT pentanucleotide repeat in intron 9 of a novel gene, ATXN10, on chromosome 22q13.3. It is clinically characterized by progressive ataxia, seizures, and anticipation, which can
Neurologic disorders masquerading as pediatric sleep problems.
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Neurologic disorders may present or masquerade as pediatric sleep problems and fool the pediatrician, which may delay diagnosis and treatment. Many of the sleep problems in children with neurologic disorders arise directly from primary dysfunction or delayed maturation of their sleep-wake regulation
Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.
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Myoclonus is a sudden brief, involuntary muscle jerk. Of all the movement disorders, myoclonus is the most difficult to encapsulate into any simple framework. On the one hand, a classification system is required that is clinically useful to aid in guiding diagnosis and treatment. On the other hand,
[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging].
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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,
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