Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report.
AbstractThe spinal muscular atrophy is a rare autosomal recessive genetic disease characterized by the progressive loss of muscular strength. In its natural course the disease leads to death. Diabetes mellitus type 1 is an autoimmune metabolic disorder characterized by the disturbed insulin synthesis. This is a case report of an 8-year-old girl suffering from Werdnig Hoffman disease in whom DM1 was diagnosed. The unspecific clinical manifestation and diagnostic difficulties are presented in this paper. To the authors' knowledge, this is the first publication concerning the co-existence of these two medical conditions.
Acta Biochimica Polonica is an Open Acess Journal published on Creative Commons Atribution and Share Alike Licence