Neuropathies of Stuve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.

ABSTRACT: Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare disease that results in dysfunction of the autonomic nervous system, which controls involuntary processes such as breathing rate and body temperature. In infants, this can result in respiratory distress, feeding and swallowing difficulties, and hyperthermic episodes. Individuals may sweat excessively when body temperature is not elevated. Additionally, individuals have reduced ability to feel pain and may lose reflexes such as the corneal reflex that normally causes one to blink, and the patellar reflex resulting in the knee-jerk. STWS usually results in infant mortality, yet some STWS patients survive into early adulthood. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited i

SUBMITTER: Oxford AE 

PROVIDER: S-EPMC5207777 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature