Evaluation of the pediatric patient with hypotonia: don’t forget the hypotonia-cystinuria syndrome!
نویسندگان
چکیده
منابع مشابه
Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature.
AIM Hypotonia is a symptom of diminished tone of skeletal muscle associated with decreased resistance of muscles to passive stretching, which can be caused by abnormalities of the central nervous system, any element of the lower motoneuron, or both. Hypotonia is not a specific diagnosis, but can be part of over 500 different genetic disorders, with many other conditions waiting to be identified...
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Hypotonia is characterized by reduced resistance to passive range of motion in joints versus weakness, which is a reduction in the maximum muscle power that can be generated. (Dubowitz, 1985; Crawford, 1992; Martin, 2005) Based on strong research evidence, central hypotonia accounts for 60% to 80% of cases of hypotonia, whereas peripheral hypotonia is the cause in about 15% to 30% of cases. Dis...
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Extreme mobility of the joints is of great advantage to an acrobat, permitting him to assume fascinating postures. When the condition appears in infancy, however, it may be quite alarming, as it may easily be confused with serious organic disease if the features are not known. There are two basic disturbances in this condition: (1) Abnormal mobility of the bones at the joints, and (2) extreme h...
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Extreme mobility of the joints is of great advantage to an acrobat, permitting him to assume fascinating postures. When the condition appears in infancy, however, it may be quite alarming, as it may easily be confused with serious organic disease if the features are not known. There are two basic disturbances in this condition: (1) Abnormal mobility of the bones at the joints, and (2) extreme h...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2011
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2011.04195.x