Choreoathetosis: Causes & Reasons

Possible Causes for Choreoathetosis

Benign Familial Infantile Epilepsy Type 4

[…] seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. [ncbi.nlm.nih.gov]

[…] gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis [ncbi.nlm.nih.gov]

[…] disorder paroxysmal kinesigenic choreoathetosis (PKC) (OMIM 128200), or both. [ncbi.nlm.nih.gov]

Paroxysmal Kinesigenic Dyskinesia

Initially, abnormal movements were intermediate in speed between quick and slow, typical of paroxysmal choreoathetosis. [en.wikipedia.org]

It has long been usual to distinguish between paroxysmal kinesigenic dystonia/choreoathetosis and non-kinesigenic paroxysmal dystonic choreoathetosis. [doi.org]

"Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis". [en.wikipedia.org]

Infantile Convulsions and Choreoathetosis

Initially, abnormal movements were intermediate in speed between quick and slow, typical of paroxysmal choreoathetosis. [en.wikipedia.org]

ICCA means Infantile Convulsions and Choreoathetosis What is the abbreviation for Infantile Convulsions and Choreoathetosis? [acronymsandslang.com]

One variant known as infantile convulsions and choreoathetosis ( ICCA ) forms an association between BFIE and paroxysmal kinesigenic choreoathetosis and has been linked to [eng.ichacha.net]

Chorea Gravidarum

Pregnancy Associated Choreoathetosis, Pregnancy-Associated Gravidarum, Chorea Pregnancy-Associated Choreoathetoses Pregnancy-Associated Choreoathetosis Pregnancy-Induced [online-medical-dictionary.org]

Pregnancy Associated Choreoathetosis, Pregnancy-Associated Pregnancy-Associated Choreoathetoses Pregnancy-Associated Choreoathetosis Pregnancy-Induced Chorea Pregnancy-Induced [finto.fi]

(From Md Med J 1997 Sep;46(8):436-9) Huomautus muutoshistoriasta 2000 Muunkieliset termit ruotsi suomi chorea gravidarum choreoathetosis gravidarum raskaudenaikainen koreoatetoosi [finto.fi]

Hallervorden-Spatz Syndrome

PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by dystonia, rigidity, and choreoathetosis [ncbi.nlm.nih.gov]

Obligate characteristics are as follows: onset in the first two decades, progressive course, extrapyramidal signs (dystonia, rigidity, or choreoathetosis), MRI hypodensities [pediatricneurologybriefs.com]

He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became [ncbi.nlm.nih.gov]

Paroxysmal Exertion-Induced Dyskinesia

He highlighted the kinesigenic component and coined the term "paroxysmal kinesigenic choreoathetosis" as a specific entity within the paroxysmal choreoathetosis syndrome. [medlink.com]

choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis. [ncbi.nlm.nih.gov]

Adult-Onset Cervical Dystonia Type DYT23

Early-onset generalized limb-onset dystonia Focal, segmental or multifocal dystonia Generalized isolated dystonia Hemidystonia-hemiatrophy syndrome Infantile convulsions and choreoathetosis [se-atlas.de]

Associated Rigidity due to corticospinal involvement Hypotonia - choreoathetosis Pattern of movement Flexion extension, supination pronation of hand and finger Eversion inversion [vdocuments.net]

[…] unknown 18p (questionable) Autosomal dominant primary focal cervical dystonia DYT8 118800 MR1 2q35 Paroxysmal nonkinesigenic dyskinesia DYT9 601042 SLC2A1 1p35-p31.3 Episodic choreoathetosis [vdocuments.net]

Familial Infantile Bilateral Striatal Necrosis

The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. [ncbi.nlm.nih.gov]

Clinical manifestations are developmental regression, choreoathetosis, dystonia, dysphagia, and mental retardation. [pediatricneurologybriefs.com]

Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. [ncbi.nlm.nih.gov]

Dentatorubral-Pallidoluysian Atrophy

Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. [cloud-clone.com]

[…] of nervous system DRPLA Haw River Syndrome Naito-Oyanagi disease NOD Ataxia, Chorea, Seizures, and Dementia Dentatorubral pallidoluysian atrophy Myoclonic Epilepsy With Choreoathetosis [wikidata.org]

Paroxysmal Non-Kinesigenic Dyskinesia

"Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis". [en.wikipedia.org]

Paroxysmal Nonkinesigenic Dyskinesia Other names PNKD, Paroxysmal dystonic choreoathetosis, PDC, Mount-Reback syndrome [1], Nonkinesigenic choreoathetosis, Familial paroxysmal [en.wikipedia.org]

He highlighted the kinesigenic component and coined the term "paroxysmal kinesigenic choreoathetosis" as a specific entity within the paroxysmal choreoathetosis syndrome. [medlink.com]

Senile Chorea

paroxysmal Chronic progressive non-hereditary chorea Hemiballism Hemiballism (abnormal involuntary movements) Paroxysmal choreoathetosis Post-hemiplegic chorea Progressive [icd10data.com]

[…] gravidarum Hyperthyroidism Birth control pills Hyperosmolar nonketotic hyperglycemic encephalopathy Vascular Hemichorea/hemiballismus with subthalamic nucleus lesion Post-pump choreoathetosis [neupsykey.com]

Chorea

(abnormal involuntary movements) Hemichorea Henoch's chorea Kinesiogenic choreoathetosis On examination - choreiform movement Oral choreiform movement Paroxysmal choreoathetosis [icd9data.com]

We present a case of an older man who developed progressive choreoathetosis secondary to polycythaemia vera which resolved with serial venesections. [ncbi.nlm.nih.gov]

What is choreoathetosis? Athetosis is a form of chorea that is slow and writhing in quality. [movementdisorders.ufhealth.org]

GLUT1 Deficiency Syndrome

However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating [ncbi.nlm.nih.gov]

[…] progressively increased, the phenotypes have also broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis [themedicalbiochemistrypage.org]

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. [ncbi.nlm.nih.gov]

Alpers Syndrome

Other movement-related symptoms in affected individuals can include involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a [rarediseases.oscar.ncsu.edu]

Headaches, visual disturbances and movement disorders (e.g. myoclonus and choreoathetosis) are also common. Cerebellar ataxia develops in most patients. [orpha.net]

Lesch-Nyhan Syndrome

A lil bit of notes: - Defective purine salvage - Lacks hypoxanthine guanine phosphoribosyl pyrophosphate transferase (HPRT) enzyme - X-linked recessive - Choreoathetosis - [medicowesome.com]

Lesch-Nyhan syndrome - a genetic disorder marked by choreoathetosis, mental retardation, and self-mutilation. Nyhan, William Leo, U.S. pediatrician, 1926–. [medical-dictionary.thefreedictionary.com]

A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. choreoathetosis self-mutilation syndrome complete HPRT deficiency complete [ghr.nlm.nih.gov]

Ataxia Telangiectasia

It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk [ncbi.nlm.nih.gov]

[…] ataxia-telangiectasia [MIM*208900] an autosomal recessive multisystem disorder consisting of ataxia, ocular apraxia, hypotonia, proprioceptive sensory loss, areflexia, and choreoathetosis [medical-dictionary.thefreedictionary.com]

We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the [ncbi.nlm.nih.gov]

Familial Dyskinesia and Facial Myokymia

[…] gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster [ncbi.nlm.nih.gov]

All patients presented with motor milestone delay, infantile-onset action-induced generalized choreoathetosis, dystonia, or myoclonus, with episodic exacerbations during drowsiness [foundationdystoniaresearch.org]

Infantile convulsions and choreoathetosis syndrome (ICCA syndrome). [neupsykey.com]

Alternating Hemiplegia of Childhood

Hypotonia, dystonia, and choreoathetosis persisted with exacerbation under febrile conditions, but no cerebellar ataxia had ever evolved in 6 years. [ncbi.nlm.nih.gov]

[…] relatively more common, alternating hemiplegia of childhood (AHC), complicated by developmental deterioration, cognitive impairment, and permanent neurological deficits such as choreoathetosis [ncbi.nlm.nih.gov]

Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 20

Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, [ghr.nlm.nih.gov]

Paroxysmal dystonia Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Pure hereditary spastic paraplegia Silver disease Spastic paraparesis Spastic [icdlist.com]

[MIM: 612281 ] NIPBL Q6KC79 non-pleiotropic Cornelia de Lange syndrome 1 (CDLS1) [MIM: 122470 ] NKX2-1 P43699 pleiotropic Chorea, hereditary benign (BHC) [MIM: 118700 ] Choreoathetosis [sbg.bio.ic.ac.uk]

Neurodegeneration with Brain Iron Accumulation

Patients with HSS/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary [ncbi.nlm.nih.gov]

Abstract We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory [ncbi.nlm.nih.gov]

[…] formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis [orpha.net]

Primary Torsion Dystonia

[…] episodic ataxia and spasticity OR Paroxysmal exertion-induced dyskinesia 2 Autosomal dominant 1p DYT10 PRRT2 Proline-rich transmembrane protein 2 Paroxysmal kinesigenic choreoathetosis [dystonia-foundation.org]

2q34 Paroxysmal Nonkinesogenic Dyskinesia Autosomal Dominant Attacks of dystonia precipitated by stress, fatigue, alcohol, and chocolate DYT-9 (CSE) 1p34-p22 Paroxysmal Choreoathetosis [cmdg.org]

The disorder is also known as DYT8, paroxysmal dystonic choreoathetosis, or Mount-Reback syndrome. [rarediseases.org]

Autosomal Recessive Spinocerebellar Ataxia 18

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA [profiles.umassmed.edu]

CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY DYSTONIA 9; DYT9 [slideshare.net]

Progressive supranuclear palsy - Striatonigral degeneration Dystonia / Dyskinesia ( Spasmodic torticollis, Meige's, Blepharospasm ) Essential tremor - Myoclonus - Lafora Chorea ( Choreoathetosis [wikidoc.org]

Familial Infantile Myoclonic Epilepsy

Kinesigenic, With Episodic Ataxia And Spasticity Choreoathetosis/Spasticity, Episodic CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia DYT9 601042 Genetic Test Registry [ukgtn.nhs.uk]

Mutations in the PRRT2 gene can cause paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC, also called infantile convulsions and choreoathetosis or ICCA), [genedx.com]

A syndrome called familial infantile convulsions and choreoathetosis (ICCA; see this term) has been observed in which BFIE patients present in childhood and/or adolescence [rarediseases.info.nih.gov]

Ataxia-Telangiectasia-Like Disorder Type 1

Choreoathetosis is quite common. In the majority of cases, intelligence is normal: around 30% of patients have learning difficulties or moderate intellectual deficiency. [orpha.net]

DS: H01616 ] Description Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis [genome.jp]

[…] disease characterized by neurological impairment (progressive cerebellar ataxia, axonal peripheral neuropathy, oculomotor apraxia, and movement disorders such as dystonia, choreoathetosis [raredisorders.imedpub.com]

Ataxia-Oculomotor Apraxia Syndrome

The clinical features included onset between 2 and 7 years of age, ataxia, ocular motor apraxia, choreoathetosis, depressed or absent deep tendon reflexes, dysarthria, masklike [pediatricneurologybriefs.com]

[DS:H01616] Description Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis [genome.jp]

Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like syndrome Huntington disease-like syndrome due to C9ORF72 expansions Infantile convulsions and choreoathetosis [se-atlas.de]

Benedict Syndrome

It is characterized by: Ipsilateral oculomotor nerve palsy Contralateral hemiparesis Contralateral cerebellar ataxia and/or Holmes tremor and/or choreoathetosis. [pubmed.ncbi.nlm.nih.gov]

[…] specific damage in the midbrain that causes ipsilateral oculomotor nerve palsy, contralateral hemiparesis, and contralateral cerebellar ataxia and/or Holmes tremor and/or choreoathetosis [statpearls.com]

This historical legacy has subsequently led to patients with pupil sparing, associated "plus-minus lid" syndrome, and varied associated tremors and choreoathetosis' being [pubmed.ncbi.nlm.nih.gov]

Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia

[…] tremor, cervical dystonia Dentatorubropallidoluysian atrophy (DRPLA) (autosomal dominant) 12p13.31, > 36 CAG repeats, Atrophin-1, c-Jun NH(2)-terminal kinase (JNK) Ataxia, choreoathetosis [bcm.edu]

(15%) Characterized by choreoathetosis (involuntary writhing of face, tongue, hands, and feet sometimes overridden by jerking movements of trunk, arms, and legs) Involvement [brainaacn.org]

[…] congenital myopathy Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan Convulsions, benign familial infantile Convulsions, familial infantile, with paroxysmal choreoathetosis [qlinics.com]

Propionic Acidemia

Patients may also present with acute neurological crisis characterized by dystonia, rigidity, choreoathetosis and dementia (due to infarction of basal ganglia). [orpha.net]

Two patients whose prominent features were hypotonia followed by spastic quadriparesis and choreoathetosis. Both had seizures. [ncbi.nlm.nih.gov]

Prata-Libéral-Gonçalves Syndrome

[…] of cerebellum Paris-Trousseau thrombopenia Parkinson dementia Steele type Parkinsonism early onset mental retardation Paroxysmal cold hemoglobinuria Paroxysmal dystonic choreoathetosis [mindmappedia.com]

Parkinson's disease Parkinson dementia Steele type Parkinsonism early onset mental retardation Parkinsonism Parkinson's disease Paroxysmal cold hemoglobinuria Paroxysmal dystonic choreoathetosis [bioreference.net]

Paroxysmal dystonic choreoathetosis[?] Paroxysmal nocturnal hemoglobinuria[?] Paroxysmal ventricular fibrillation[?] Parry-Romberg syndrome[?] Pars planitis[?] [encyclopedia.kids.net.au]

Autosomal Recessive Spinocerebellar Ataxia Type 17

CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY DYSTONIA 9; DYT9 [slideshare.net]

NMS ) · PKAN · Tauopathy ( PSP ) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia : Dystonia ( Spasmodic torticollis, Meige's, Blepharospasm ) · Chorea ( Choreoathetosis [thefullwiki.org]