Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Painful legs and moving toes |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Progressive myoclonic epilepsy |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Late onset dementia due to Lewy body disease |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
Autosomal dominant idiopathic familial dystonia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Tic caused by drug |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Post-anoxic myoclonus |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Generalized dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Myoclonus of stapedius muscle (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Non-epileptic myoclonus (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Hemidystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Reflex blepharospasm (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Myoclonus associated with fever |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Myoclonic dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Habit tic (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Habit tic affecting skin (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Habit tic affecting hair (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Recurrent transient tic disorder |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Medication-induced movement disorder |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Drug-induced dystonia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Drug-induced orofacial dyskinesia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Benign neonatal sleep myoclonus (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Transient tic disorder |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Myoclonus of tensor tympani muscle (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Segmental dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Torsion dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Autoimmune opsoclonus myoclonus |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Acquired ataxia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Ataxia due to chronic infection of central nervous system (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Toxic dystonia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Paroxysmal nonkinesigenic dyskinesia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Paroxysmal kinesigenic dyskinesia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Essential tremor |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Laryngeal dystonia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
myoclonie nocturne |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Organic sleep related movement disorder (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Brainstem myoclonus |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Refractory juvenile myoclonic epilepsy |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Cerebral cortex myoclonus (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Spinal cord myoclonus |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Autosomal recessive idiopathic familial dystonia |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Congenital athetosis |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Progressive myoclonus epilepsy with ataxia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Huntington disease-like syndrome |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Frontotemporal dementia with parkinsonism-17 |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Dystonia 6 |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Lewy body dementia with behavioral disturbance |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
Blepharospasm |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Acquired torsion dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreoathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
Hereditary essential tremor |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Dissociative neurological symptom disorder co-occurrent with dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Sleep-related movement disorder caused by drug |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Sleep-related movement disorder caused by substance |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Transient motor tic (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Ataxia due to mitochondrial mutations |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Secondary tic disorder (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Tic due to developmental disorder (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Segmental myoclonus (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Primary tic disorder (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
5 |
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
1 |
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Infection causing tic (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
1 |
Tic due to and following infection (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Chorea co-occurrent and due to Huntington disease-like condition (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
Functional dystonia (disorder) |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
3 |
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
1 |
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
1 |
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterised by the occurrence of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. |
Interprets |
False |
mouvement |
Inferred relationship |
Some |
4 |