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Article: Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness

TitleAtypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness
Authors
Kong, CKKo, CHTong, SFLam, CW
Issue Date2001
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2001, v. 57 n. 6, p. 1121-1124 How to Cite?
DOI: http://dx.doi.org/10.1212/WNL.57.6.1121
AbstractDopa-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 mutation but did not have proximal weakness. GTP cyclohydrolase I deficiency can present with hypotonia and weakness.
Persistent Identifierhttp://hdl.handle.net/10722/148267
ISSN
0028-3878
2021 Impact Factor: 11.800
2020 SCImago Journal Rankings: 2.910
ISI Accession Number ID
WOS:000171115900039
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorKong, CKen_US
dc.contributor.authorKo, CHen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:11:53Z-
dc.date.available2012-05-29T06:11:53Z-
dc.date.issued2001en_US
dc.identifier.citationNeurology, 2001, v. 57 n. 6, p. 1121-1124en_US
dc.identifier.issn0028-3878en_US
dc.identifier.urihttp://hdl.handle.net/10722/148267-
dc.description.abstractDopa-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 mutation but did not have proximal weakness. GTP cyclohydrolase I deficiency can present with hypotonia and weakness.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_US
dc.relation.ispartofNeurologyen_US
dc.subject.meshCarbidopa - Therapeutic Useen_US
dc.subject.meshChilden_US
dc.subject.meshChromosome Aberrations - Geneticsen_US
dc.subject.meshChromosome Disordersen_US
dc.subject.meshCircadian Rhythm - Physiologyen_US
dc.subject.meshDrug Combinationsen_US
dc.subject.meshDystonic Disorders - Diagnosis - Drug Therapy - Geneticsen_US
dc.subject.meshGtp Cyclohydrolase - Geneticsen_US
dc.subject.meshGait - Drug Effectsen_US
dc.subject.meshGenes, Dominant - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshLevodopa - Therapeutic Useen_US
dc.subject.meshMaleen_US
dc.subject.meshMuscle Hypotonia - Diagnosis - Drug Therapy - Geneticsen_US
dc.subject.meshMuscle Weakness - Diagnosis - Drug Therapy - Geneticsen_US
dc.subject.meshNeurologic Examinationen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshTreatment Outcomeen_US
dc.titleAtypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weaknessen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1212/WNL.57.6.1121-
dc.identifier.pmid11571350-
dc.identifier.scopuseid_2-s2.0-0035949789en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035949789&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume57en_US
dc.identifier.issue6en_US
dc.identifier.spage1121en_US
dc.identifier.epage1124en_US
dc.identifier.isiWOS:000171115900039-
dc.publisher.placeUnited Statesen_US
dc.identifier.issnl0028-3878-

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