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- Title
HSD10 disease in a female patient with juvenile onset parkinsonism.
- Authors
Rosário, Madalena; Carvalho, Vanessa; Moldovan, Oana; Crawford, Joana; Chendo, Inês; Reimão, Sofia; Rosa, Mário Miguel; Correia Guedes, Leonor
- Abstract
This article discusses a case study of a female patient with HSD10 disease (HSD), a rare X-linked disorder caused by variants in the HSD17B10 gene. Typically, HSD presents in male infants with developmental regression, epilepsy, movement disorders, cardiomyopathy, and visual impairment. However, this case describes a female patient who presented with cognitive and behavioral symptoms in childhood and later developed juvenile-onset parkinsonism. The diagnosis was confirmed through genetics and biochemical studies, and no effective treatment is currently available. The article expands the understanding of the phenotype of HSD in females and highlights the importance of considering it in the differential diagnosis of juvenile parkinsonism.
- Subjects
JUVENILE diseases; PARKINSONIAN disorders; MOVEMENT disorders; ICHTHYOSIS; WOMEN patients; FRAGILE X syndrome; MUSCLE rigidity
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 4, p431
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13917