MeSH Browser

MeSH Supplementary: Dystonia 3, Torsion, X-Linked
Unique ID: C564048
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564048
Entry Term(s): Dystonia-Parkinsonism, X-Linked; Lubag; Lubag Syndrome; Torsion Dystonia-Parkinsonism, Filipino Type; X-Linked Dystonia-Parkinsonism; X-Linked Dystonia-Parkinsonism Syndrome; X-Linked Torsion Dystonia-Parkinsonism Syndrome
Heading Mapped to: *Dystonic Disorders; *Genetic Diseases, X-Linked
Frequency: 102
Note: An X-linked movement disorder that affects predominantly males of Filipino descent and is characterized by PARKINSONISM followed by DYSTONIA later in life. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. It is caused by an SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) RETROTRANSPOSON insertion in an INTRON of the TAF1 gene. OMIM: 314250
Date of Entry: 2012/11/05
Revision Date: 2015/09/26

Dystonia 3, Torsion, X-Linked MeSH Supplementary Concept Data 2024