Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report | Zendy

Anna Borkowska | Zendy; Agnieszka Jankowska | Zendy; Agnieszka SzlagatysSidorkiewicz | Zendy; Beata Sztangierska | Zendy; Anna Liberek | Zendy; Katarzyna PlataNazar | Zendy; Barbara Kamińska | Zendy

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Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report

Author(s) -

Anna Borkowska,

Agnieszka Jankowska,

Agnieszka SzlagatysSidorkiewicz,

Beata Sztangierska,

Anna Liberek,

Katarzyna PlataNazar,

Barbara Kamińska

Publication year - 2015

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2014_883

Subject(s) - girl , spinal muscular atrophy , medicine , pediatrics , atrophy , disease , diabetes mellitus , type 2 diabetes mellitus , pathology , endocrinology , genetics , biology

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.

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