Literature DB >> 25669159

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

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.

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Year:  2015        PMID: 25669159     DOI: 10.18388/abp.2014_883

Source DB:  PubMed          Journal:  Acta Biochim Pol        ISSN: 0001-527X            Impact factor:   2.149


  3 in total

1.  Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.

Authors:  Lisa M Walter; Marc-Olivier Deguise; Katharina E Meijboom; Corinne A Betts; Nina Ahlskog; Tirsa L E van Westering; Gareth Hazell; Emily McFall; Anna Kordala; Suzan M Hammond; Frank Abendroth; Lyndsay M Murray; Hannah K Shorrock; Domenick A Prosdocimo; Saptarsi M Haldar; Mukesh K Jain; Thomas H Gillingwater; Peter Claus; Rashmi Kothary; Matthew J A Wood; Melissa Bowerman
Journal:  EBioMedicine       Date:  2018-05-04       Impact factor: 8.143

2.  Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.

Authors:  Lisa M Walter; Christiane E Koch; Corinne A Betts; Nina Ahlskog; Katharina E Meijboom; Tirsa L E van Westering; Gareth Hazell; Amarjit Bhomra; Peter Claus; Henrik Oster; Matthew J A Wood; Melissa Bowerman
Journal:  Hum Mol Genet       Date:  2018-10-15       Impact factor: 6.150

3.  Coexistence of Type 1 Diabetes Mellitus and Periventricular Heterotopia in a Child: A Case Report.

Authors:  Faruk Incecik; Fatih Gürbüz
Journal:  J Pediatr Neurosci       Date:  2020-03-18
  3 in total

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