نتایج جستجو برای: central hypotonia
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tone is functionally as resistance to passive movement. it is separated into postural tone and phasic tone. phasic tone is the result of rapid stretching of a tendon and the muscle spindle, however postural tone is the result of a steady, restrained strech on muscles. hypottonia is a decreased resistance to passive movement. the term floppy is frequently used to describe hypotonic children. in ...
South African Journal of Occupational Therapy — Volume 43, Number 3, December 2013 36. Curran A & Jardine P. The Floppy Infant. Current Paediatrics,1998;8:37-42. 37. Walton JN. The Floppy Infant. Cerebral Palsy Bulletin,1960;2:10-18. 38. Lisi EC & Cohn RD. Genetic Evaluation Of The Pediatric Patient With Hypotonia: Perspective From A Hypotonia Specialty Clinic And Review Of The Literature. Deve...
Canavan disease is an autosomal recessive leukodystrophy due to accumulation of N-acetyl aspartic acid (NAA) in brain, cerebrospinal fluid (CSF), and urine characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, sleep disturbance and macrocephaly. Brain magnetic resonance imaging (MRI) shows white-matter changes. The best method for diagnosis is determined...
OBJECTIVE Neonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as replacing the historical treatment with insulin injections with oral sulfonylurea (SU) therapy has been proven beneficial. SU receptors are widely expressed in the brain, and we therefore evaluated potential effects of SU on n...
Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the GTP cyclohydrolase I gene. The patient's father and sister had the same mutati...
Case presentation: Boy, 10 months, late premature infant. His parents aren’t consanguineous. He had recurrent and refractory spasm-like seizures, neurodevelopmental regression started at 4 months. On physical examination, he lack of visual social interaction, microcephaly, central hypotonia, upper motor neuron syndrome dyskinesias. seizure control with Levetiracetam for just one month. It was i...
We present four patients, in whom we identified overlapping deletions in 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and ...
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