A family clinical case of combination of two mendelial diseases: spinocerebellar ataxia type 1 and hypophosphatemic ricketis
https://doi.org/10.25789/YMJ.2025.92.30
Abstract
The combination of two genetic syndromes in a single patient is a rare occurrence. This article describes a clinical case of a rare combination of two Mendelian diseases: spinocerebellar ataxia type I (SCA 1) and hypophosphatemic rickets in a single Yakut family. Given the low incidence of both diseases, this finding is of scientific and practical interest. The paper discusses a clinical observation of family members examined in 2012 and 2025. This clinical example is also relevant for practicing physicians. It is necessary to develop algorithms for monitoring complications of spinocerebellar ataxia and phosphate diabetes and to identify pathogenetic therapy.
About the Authors
M. A. Varlamova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
T. K. Davydova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
O. G. Sidorova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
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Review
For citations:
Varlamova M.A., Davydova T.K., Sidorova O.G. A family clinical case of combination of two mendelial diseases: spinocerebellar ataxia type 1 and hypophosphatemic ricketis. Yakut Medical Journal. 2025;(4):137-140. (In Russ.) https://doi.org/10.25789/YMJ.2025.92.30
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