Dystonia, Juvenile-Onset (DJO)

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OMIM® 57 607371 KEGG 36 H01255 MeSH 44 D004421 ICD10 via Orphanet 33 Q87.8

Orphanet 58 ORPHA79107 MedGen 41 C1846331 SNOMED-CT via HPO 68 111266001 128306009 193570009 194021007 22006008 224958001 228156007 234532001 237836003 247053007 247578003 25273001 253983005 263681008 267258002 276610007 288939007 405773007 40739000 414564002 425492002 45564002 60700002 63567004 64217002 65956007 66948001 74370006 80281008 86765009 87979003 91138005 more UMLS 70 C1846331

GARD : ²⁰ Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes ( mutations ) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.

MalaCards based summary : Dystonia, Juvenile-Onset, also known as developmental malformations-deafness-dystonia syndrome, is related to dystonia and baraitser-winter cerebrofrontofacial syndrome. An important gene associated with Dystonia, Juvenile-Onset is ACTB (Actin Beta), and among its related pathways/superpathways are Phagosome and Focal adhesion. Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and scoliosis

KEGG : ³⁶ Juvenile-onset dystonia 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.

UniProtKB/Swiss-Prot : ⁷² Dystonia, juvenile-onset: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.

More information from OMIM: 607371

Clinical features from OMIM®:

607371 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Dystonia, Juvenile-Onset

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