Asunto(s)
Hiperbilirrubinemia Hereditaria/metabolismo , Sulfobromoftaleína/metabolismo , Cromatografía en Papel , Coproporfirinas/orina , Femenino , Heterocigoto , Humanos , Hiperbilirrubinemia Hereditaria/genética , Ictericia Idiopática Crónica/genética , Ictericia Idiopática Crónica/metabolismo , Hígado/metabolismo , Masculino , FenotipoRESUMEN
There is an unusually high frequency of torsion dystonia in Panay. Of the 28 Filipino cases, 23 (82%) are from the island of Panay and 19 of the 23 (82%) are from the province of Capiz. The 28 cases belong to 25 families Six sets of brothers are noted. All are males. Pedigree analysis reveals six families with several members affected. Two families show features suggesting possible sex-linked recessive transmission, a mode of inheritance previously undescribed in the literature. The clinical features of the cases seen in this series differ from previously described cases in the literature in several aspects: (a) sex preponderance--all males; (b) age at onset--older age of onset, mean of 31; (c) hereditary--possible sex-linked recessive transmission; (d) spasmodic eye blinking as first symptom in four patients.