Dystonia, Juvenile-Onset

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OMIM 57 607371 Orphanet 59 ORPHA79107 ICD10 via Orphanet 34 Q87.8 MedGen 42 C1846331

MeSH 44 D004421 KEGG 37 H01255 SNOMED-CT via HPO 69 263681008 25273001 63567004 87979003 253983005 66948001 80281008 194021007 22006008 60700002 128306009 193570009 247053007 65956007 228156007 247578003 91138005 86765009 224958001 267258002 276610007 288939007 40739000 45564002 111266001 64217002 234532001 405773007 414564002 74370006 237836003 425492002 more UMLS 73 C1846331

NIH Rare Diseases : ⁵³ 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 juvenile-onset dystonia, is related to dystonia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Dystonia, Juvenile-Onset is ACTB (Actin Beta), and among its related pathways/superpathways are Phagosome and Focal adhesion. Related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Description from OMIM: 607371

Clinical features from OMIM:

607371

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