Variability of multisystemic features in XXXX type 1 - lessons from Serbian registry.

@entity1 @entity6045 @entity425 @entity8814 @entity2963 @entity209 @entity3918 @entity1142 @entity1371
BACKGROUND: @entity3918 type 1 ( @entity6045 ) is a rare disease. Creating registry for such a disease is of outstanding importance since it provides us with a full spectrum of the disorder. AIM: To assess variability of different multisystemic features in a large cohort of @entity1 with @entity6045 . @entity1 AND METHOD: Data from the Serbian registry for @entity3918 were used in the study. Final number of included @entity6045 subjects was 275. RESULTS: Registry included 53.8% of male @entity1 . Age at enrollment was 47.2        9.9years, mean disease duration 20.4        9.9years, and mean CTG repeats number 598.3        269.8.Progression of @entity425 was pretty slow, slower in proximal than distal muscles, and slower in arms than in legs. Severe ECG abnormality was found in 25.0% of @entity1 and pacemaker was implanted in 9.5%. Lens opacities were observed in 83.5% of @entity6045 @entity1 and 35.3% had @entity8814 . @entity209 were very common, while 19.5% of @entity1 had @entity1371 and 37.8% hypochloremia. Sterility was found in 20.5% of males and 4.1% of females. @entity2963 was found in 36.4% of @entity1 and @entity1142 in 29.9%. CONCLUSIONS: We defined the most common characteristics of our @entity6045 @entity1 and observed some treatable symptoms that have been neglected previously. Certain findings deserve further investigations in terms of their causes and consequences. Besides this, presented data analysis directs us to make further improvements of the Registry.
