Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Muscle diseases categories
Aliases & Descriptions for Dystonia-12:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Ear diseases, Muscle diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy
UniProtKB/Swiss-Prot:67 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
MalaCards based summary: Dystonia-12, also known as dystonia 12, is related to alternating hemiplegia of childhood and hemiplegia, and has symptoms including autosomal dominant inheritance, hypomimic face and torticollis. An important gene associated with Dystonia-12 is ATP1A3 (ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide).
Genetics Home Reference:23 Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.
OMIM:49 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt... (128235) more...
Diseases in the Dystonia family:
Diseases related to Dystonia-12 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of diseases related to Dystonia-12:
HPO human phenotypes related to Dystonia-12:(show all 16)
Drugs for Dystonia-12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 23)
Interventional clinical trials:(show all 38)
Search NIH Clinical Center for Dystonia-12
UniProtKB/Swiss-Prot genetic disease variations for Dystonia-12:67
Clinvar genetic disease variations for Dystonia-12:5 (show all 16)
Search GEO for disease gene expression data for Dystonia-12.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet