DJO
MCID: DYS162
MIFTS: 28
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Dystonia, Juvenile-Onset (DJO)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Dystonia, Juvenile-Onset:
Characteristics:Orphanet epidemiological data:59
developmental malformations-deafness-dystonia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: adult; HPO:32
dystonia, juvenile-onset:
Mortality/Aging death in early adulthood Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases
ICD10:
34
Orphanet: 59
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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. Affiliated tissues include eye, and 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
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Diseases in the Dystonia family:
Diseases related to Dystonia, Juvenile-Onset via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:607371Human phenotypes related to Dystonia, Juvenile-Onset:59 32 (show all 27)
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MalaCards organs/tissues related to Dystonia, Juvenile-Onset:41
Eye
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Articles related to Dystonia, Juvenile-Onset:
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UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Juvenile-Onset:75
ClinVar genetic disease variations for Dystonia, Juvenile-Onset:6
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Search
GEO
for disease gene expression data for Dystonia, Juvenile-Onset.
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