Dentatorubropallidoluysian Atrophy with Prominent Autonomic Dysfunction

We herein report a 45-year-old man with dentatorubropallidoluysian atrophy (DRPLA) who presented with mild dementia, ataxia, and involuntary movement and developed constipation, dysuria, and orthostatic hypotension. Thermography revealed an abnormal thermal response of the skin to cold stimulation....

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Detalles Bibliográficos
Autores principales: Shioya, Ayako, Takuma, Hiroshi, Ohkoshi, Norio, Hirano, Kuniyoshi, Ishihara, Tomohiko, Ishii, Kazuhiro, Tamaoka, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076134/
https://www.ncbi.nlm.nih.gov/pubmed/35989279
http://dx.doi.org/10.2169/internalmedicine.9616-22
Descripción
Sumario:We herein report a 45-year-old man with dentatorubropallidoluysian atrophy (DRPLA) who presented with mild dementia, ataxia, and involuntary movement and developed constipation, dysuria, and orthostatic hypotension. Thermography revealed an abnormal thermal response of the skin to cold stimulation. Skin temperature reflects the skin blood flow and is regulated by the sympathetic nervous system. Thermography is currently used to study diseases associated with vasomotor dysfunction of the skin. The thermography results suggested the possibility of autonomic dysfunction. Although little is known regarding autonomic dysfunction in DRPLA, this report demonstrates the importance of autonomic dysfunction in DRPLA.

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