Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 |
Movement |
Inferred relationship |
Some |
4 |
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Primary progressive freezing gait syndrome (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
4 |
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Insomnia due to periodic limb movement disorder (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Dystonia of right hand (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Dystonia of left hand (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Shuddering attacks (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Sporadic olivopontocerebellar atrophy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Focal dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Dystonia of head (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Spasmodic torticollis as late effect of trauma (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Spasmodic torticollis due to infection |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Blepharospasm of right eyelid |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Blepharospasm of left eyelid |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Bilateral blepharospasm |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
A rare genetic movement disorder with characteristics of involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Movement disorder due to toxicity of substance |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Idiopathic orofacial dystonia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Edentulous orofacial dystonia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Refractory myoclonic epilepsy |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
Idiopathic familial dystonia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Idiopathic torsion dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Movement disorder |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
Apraxia as late effect of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Apraxia due to cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Psychosis co-occurrent and due to Parkinson's disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Chorea due to and following encephalitis |
Interprets |
False |
Movement |
Inferred relationship |
Some |
3 |
Ataxia due to disorder of immune function (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Cranial nerve palsy due to diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Cranial nerve palsy due to type 1 diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Cranial nerve palsy due to type 2 diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare, localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
Tic disorder due to rheumatic chorea |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Tic disorder due to prion disease |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Tic disorder due to encephalitis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Tic disorder due to neurosyphilis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Tic disorder due to post-encephalitic syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Parkinsonism following Mycoplasma infection (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Parkinsonism due to prion disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Nail dystrophy due to habit tic (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
Callosity due to habit tic (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
Callosity due to biting and/or chewing (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Akathisia caused by drug (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Akathisia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Acute akathisia caused by drug (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Classical pantothenate kinase associated neurodegeneration |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
Atypical pantothenate kinase associated neurodegeneration (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Some |
2 |
Toxin-induced parkinsonism |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Parkinsonism caused by pesticide (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Dystonia due to Leigh syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Bell's palsy (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Some |
1 |
Paradoxical facial movements |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
Hyperexplexia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Oral dyskinesia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Excessive blinking - involuntary |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Tremor of palate (finding) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Ataxia due to mitochondrial mutations |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Tremor due to metabolic disorder |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Tremor due to substance abuse |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
Primary progressive freezing gait syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
Tardy left ulnar nerve palsy (finding) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Interprets |
False |
Movement |
Inferred relationship |
Some |
8 |
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
Autoimmune generalized polymyoclonus |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |