Juvenile-onset dystonia, also known as Dystonia-deafness syndrome 1 (DDS1), is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A02 Dystonic disorders
H01255 Juvenile-onset dystonia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01255 Juvenile-onset dystonia
nt06541 Cytoskeleton in neurons
H01255 Juvenile-onset dystonia
Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH
Title
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
