Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0020672 (
hypothermia
)
17,327
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder associated with expanded CAG repeat size in the huntingtin gene and usually presenting with movement disorder, psychiatric symptoms, and cognitive decline.
Sleep problems
, weight loss, and cachexia are also common. Here, we report a patient presenting with
hypothermia
in late-stage HD. Although thermoregulatory defects were documented in animal models, this is the first report describing HD with
hypothermia
in humans.
...
PMID:Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia. 3225 3
