期刊
JOURNAL OF CHILD NEUROLOGY
卷 28, 期 11, 页码 1517-1520出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812460096
关键词
spinal muscular atrophy; diabetes mellitus; diabetic ketoacidosis; survival motor neuron 1 gene
资金
- Spinal Muscular Atrophy Foundation
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease caused by homozygous mutation to the survival motor neuron 1 (SMN1) gene. Historically, spinal muscular atrophy has been considered to almost exclusively affect the function and survival of alpha motor neurons of the spinal cord and brainstem. With the development of animal models of spinal muscular atrophy, the presence of widespread systemic abnormalities affecting the brain, heart, and pancreas has been repeatedly noted among animals with diminished survival motor neuron protein expression. While these observations suggest similar possible effects in humans, reports of primary systemic disease manifestations among humans affected by spinal muscular atrophy are strikingly lacking. Here we report a case of a 29-year-old man with genetically confirmed spinal muscular atrophy type II who presented with new onset diabetes mellitus and diabetic ketoacidosis.
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