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Ontology Browser

Term:
Dystonia Musculorum Deformans (DOID:9008057)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Alopecia, Hypogonadism, Extrapyramidal Disorder  
basal ganglia calcification +   
basal ganglia cerebrovascular disease +  
biotin-responsive basal ganglia disease  
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
chorea gravidarum 
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Dystonia Musculorum Deformans +   
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
frontotemporal dementia +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Meige syndrome 
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
multiple system atrophy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
Neuhauser Eichner Opitz Syndrome 
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuroleptic malignant syndrome 
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
Parkinsonian Disorders +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Progressive Psychomotor Deterioration  
progressive supranuclear palsy +   
Spastic Paraplegia with Associated Extrapyramidal Signs 
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
syndromic X-linked intellectual disability 5  
torsion dystonia with onset in infancy  
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Waisman syndrome  
Wilson disease +   
Woodhouse-Sakati Syndrome  

Synonyms
Exact Synonyms: Dystonias, Torsion ;   Idiopathic Torsion Dystonia ;   Oppenheim Ziehen Disease ;   childhood torsion disease ;   dystonia deformans progressiva ;   idiopathic torsion dystonias ;   progressive torsion spasm ;   torsion disease of childhood ;   torsion dystonia
Primary IDs: MESH:D004422
Definition Sources: MESH:D004422

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.