Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Dystonia-12:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Ear diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:68 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 generalized dystonia and dystonia, and has symptoms including drooling, drooling and torticollis. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3).
Genetics Home Reference:24 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:50 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:
Graphical network of diseases related to Dystonia-12:
HPO human phenotypes related to Dystonia-12:(show all 13)
UMLS symptoms related to Dystonia-12:drooling, torticollis, bradykinesia
UniProtKB/Swiss-Prot genetic disease variations for Dystonia-12:68
Clinvar genetic disease variations for Dystonia-12:5 (show all 18)
Search GEO for disease gene expression data for Dystonia-12.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet