| Literature DB >> 25669159 |
Anna Borkowska1, Agnieszka Jankowska1, Agnieszka Szlagatys-Sidorkiewicz1, Beata Sztangierska2, Anna Liberek3, Katarzyna Plata-Nazar1, Barbara Kamińska1.
Abstract
The 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.Entities:
Mesh:
Year: 2015 PMID: 25669159 DOI: 10.18388/abp.2014_883
Source DB: PubMed Journal: Acta Biochim Pol ISSN: 0001-527X Impact factor: 2.149