MCID: APR001
MIFTS: 53

Apraxia malady

Summaries for Apraxia

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8Disease Ontology, 43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain.There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.

MalaCards: Apraxia, also known as apraxias, is related to ideomotor apraxia and aphasia. An important gene associated with Apraxia is APTX (aprataxin), and among its related pathways are Wnt / Hedgehog / Notch and Neuroscience. The compounds pemoline and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and parietal lobe, and related mouse phenotypes are taste/olfaction and endocrine/exocrine gland.

Disease Ontology:8 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

Wikipedia:63 Apraxia (from Greek praxis, an act, work, or deed) is the inability to execute learned purposeful... more...

Aliases & Classifications for Apraxia

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42NIH Rare Diseases, 8Disease Ontology, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 25ICD10
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Related Diseases for Apraxia

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17GeneCards, 18GeneDecks
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Diseases related to Apraxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1ideomotor apraxia31.2COPS2, CBS
2aphasia30.9MAPT, CBS
3gait apraxia30.7MECP2, CDKL5, CDR2, SLC25A20
4alzheimer's disease30.5HTT, PSEN1, MAPT, CBS, TTPA, SLC6A3
5progressive supranuclear palsy30.5SLC6A3, MAPT
6parkinson's disease30.5MAPT, SLC6A3
7cerebellar ataxia30.4APTX, ATM, TTPA, FXN, SETX
8dementia30.4HTT, PSEN1, MAPT, CBS, SLC6A3
9spinocerebellar ataxia autosomal recessive 130.4MORF4
10huntington's disease30.2HTT
11ataxia telangiectasia30.2APTX, ATM, AFP, SETX
12hydrocephalus30.2MAPT, AFP
13multiple system atrophy30.1SLC6A3, MAPT, HTT
14motor neuron disease29.9MAPT, HTT
15brain disease29.9CDKL5, MAPT, MECP2, PSEN1
16pick's disease29.9MAPT, PSEN1, HTT
17amyotrophic lateral sclerosis29.9HTT, PSEN1, MAPT, SLC6A3, SETX
18myopathy29.8FXN
19ataxia with vitamin e deficiency29.7SETX, FXN, TTPA, APTX
20frontotemporal dementia29.7MAPT, PSEN1
21intellectual disability29.7CDKL5, CBS, MECP2
22movement disease29.7SLC6A3, MAPT, HTT
23spinocerebellar ataxia29.7HTT, MAPT, TTPA, FXN
24neuropathy29.7SETX
25down syndrome29.7PSEN1, MECP2, AFP, MAPT, CBS
26pervasive developmental disorder29.7MECP2, FOXP2
27vascular dementia29.7MAPT, PSEN1
28cerebrovascular disease29.7CBS, SLC6A3
29early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.6
30ataxia with oculomotor apraxia type 210.5
31ataxia with oculomotor apraxia type 110.4
32agnosia10.4
33blepharospasm10.3
34developmental dyspraxia10.3
35cerebritis10.3
36speech disorder10.3
37oculomotor apraxia cogan type10.3
38ocular motor apraxia, cogan type10.3
39developmental coordination disorder10.3
40rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked10.2
41neuronitis10.2
42childhood apraxia of speech10.2
43rolandic epilepsy, mental retardation, and speech dyspraxia10.2
44eyelid disease10.1
45anterior cerebral artery infarction10.1
46mutism10.1
47galactosemia10.1
48peripheral neuropathy10.0APTX
49doid:401910.0APTX, NPHP1, TTPA, SETX
50speech and communication disorders10.0FOXP2, MECP2

Graphical network of the top 20 diseases related to Apraxia:



Diseases related to apraxia

Clinical Features for Apraxia

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Drugs & Therapeutics for Apraxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Apraxia

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Anatomical Context for Apraxia

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32MalaCards
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MalaCards organs/tissues related to Apraxia:

32
Brain, Testes, Parietal lobe, Eye, Cortex, Subthalamic nucleus, Spinal cord, Occipital lobe

Animal Models for Apraxia or affiliated genes

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36MGI
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Publications for Apraxia

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50PubMed
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Articles related to Apraxia:

(show top 50)    (show all 586)
idTitleAuthorsYear
1
Primary progressive apraxia: a syndrome difficult to categorize. (23588293)
2013
2
Constructional apraxia reversed with methylprednisolone. (22772706)
2012
3
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. (23111195)
2012
4
Effects of varying subthalamic nucleus stimulation on apraxia of lid opening in Parkinson's disease. (22349870)
2012
5
Agnosia, apraxia, callosal disconnection and other specific cognitive disorders. (22377868)
2012
6
Pure apraxia of speech - a case report -. (22506197)
2011
7
Apraxia of eyelid closure in autopsy-confirmed vascular progressive supranuclear palsy. (21669546)
2011
8
Limb apraxia in corticobasal syndrome. (20570254)
2011
9
Apraxia impairs intentional retrieval of incidentally acquired motor knowledge. (21632932)
2011
10
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. (20966389)
2011
11
Joubert syndrome presenting with motor delay and oculomotor apraxia. (22606509)
2011
12
Lack of awareness for spatial and verbal constructive apraxia. (20138899)
2010
13
Scanning your body is different from performing body movements: a double dissociation between body representational neglect and apraxia. (19084546)
2009
14
A Cochrane review of treatment for childhood apraxia of speech. (19156019)
2009
15
Browlifting as an alternative procedure for apraxia of eyelid opening. (19273924)
2009
16
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). (19893583)
2009
17
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)
2008
18
Effects of ideomotor apraxia on functional outcomes in patients with right hemiplegia. (18467934)
2008
19
Increase of frequency in deep brain stimulation relieves apraxia of eyelid opening in patients with Parkinson's disease: case report. (19057285)
2008
20
Respiratory apraxia in amyotrophic lateral sclerosis. (17538781)
2007
21
Modified Lundie loops improve apraxia of eyelid opening. (17414870)
2007
22
Influence of continual biofeedback on jaw pursuit-tracking in healthy adults and in adults with apraxia plus aphasia. (17251168)
2007
23
Imitation: is cognitive neuroscience neglecting apraxia? (16460991)
2006
24
Progressive oculo-orofacial-speech apraxia (POOSA). (17000591)
2006
25
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. (16961074)
2006
26
Apraxia of eyelid opening: clinical features and therapy. (16703535)
2006
27
Interventions for apraxia of speech following stroke. (16235357)
2005
28
School-age follow-up of children with childhood apraxia of speech. (15191325)
2004
29
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. (14736755)
2004
30
Acquired apraxia of speech: features, accounts, and treatment. (14872399)
2004
31
Distal-proximal differences in limb apraxia in corticobasal degeneration but not progressive supranuclear palsy. (14598093)
2003
32
Subacute speech apraxia and consciousness disturbance in a 57-year-old non-alcoholic man. (14719554)
2003
33
Ideomotor and ideational apraxia in corticobasal degeneration: a case study. (12925941)
2003
34
Apraxia of eyelid opening secondary to a dominant hemispheric infarction. (11993536)
2002
35
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. (11176957)
2001
36
Ocular motor apraxia and ataxia-telangiectasia. (11493182)
2001
37
A case of dressing apraxia: contributory factor to dressing apraxia. (11355161)
2001
38
Dressing and constructional apraxia in a patient with dentato-rubro-pallido-luysian atrophy. (12013594)
2001
39
Transitive gesture production in apraxia: visual and nonvisual sensory contributions. (11527354)
2001
40
Electroretinographic findings in congenital oculomotor apraxia (Cogan's syndrome). (7813377)
1994
41
Gait apraxia and headache. (8370100)
1993
42
Neuropsychological and neuroanatomical dimensions of ideomotor apraxia. (1559165)
1992
43
Multiple learning tasks in patients with ideomotor apraxia. (1887197)
1991
44
Recovery from ideomotor apraxia. A study on acute stroke patients. (3580833)
1987
45
Ideomotor apraxia arising from a purely deep lesion. (3701358)
1986
46
Neuroacanthocytosis syndrome, apraxia of eyelid opening, and progressive supranuclear palsy. (3748400)
1986
47
Gait apraxia in normal-pressure hydrocephalus: patterns of movement and muscle activation. (3969202)
1985
48
Parkinsonism, gait apraxia and dementia associated with intracranial calcifications. A case report. (6845088)
1983
49
Ideomotor apraxia and P300: a preliminary study. (7066088)
1982
50
Clumsy children: developmental apraxia and agnosia. (13998739)
1962

Genetic Variations for Apraxia

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Expression for genes affiliated with Apraxia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Apraxia

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Pathways for genes affiliated with Apraxia

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4Cell Signaling Technology
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Pathways related to Apraxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3AFP, PSEN1, FOXP2
210.2MAPT, MECP2, PSEN1, HTT

Compounds for genes affiliated with Apraxia

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Apraxia according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1pemoline4410.7NPHP1, SLC6A3
2alpha tocopherol4410.6SETX, FXN, TTPA, APTX
3coq104410.6APTX, HTT
4spec-t4410.6PSEN1, AFP, MAPT, SLC6A3
5vitamin-e4410.6SETX, FXN, TTPA, CBS, APTX
6vitamin b124410.6PSEN1, AFP, MAPT, CBS
7bleomycin44 1111.5AFP, ATM
8valproate4410.5SLC6A3, MAPT, MECP2
9folate4410.5PSEN1, MECP2, AFP, MAPT, CBS
10valine4410.5PSEN1, AFP, MAPT, SLC6A3
11nmda44 2811.4SLC6A3, CBS, MAPT, PSEN1, HTT
12glycogen44 2411.4HTT, FOXP2, PSEN1, AFP, MAPT
13methionine4410.4PSEN1, MECP2, MAPT, CBS
14iron44 2411.4HTT, ATM, AFP, CBS, FXN
15kainate44 2811.4MAPT, PSEN1, HTT
16creatinine4410.4HTT, AFP, MAPT, SLC25A20, SLC6A3
17arginine4410.4PSEN1, MECP2, MAPT, CBS, TTPA, SLC25A20
18glutamine4410.4HTT, FOXP2, PSEN1, ATM, AFP, MAPT
19zinc44 2411.3APTX, MECP2, ATM, AFP, MAPT, CBS
20glucose4410.3HTT, PSEN1, AFP, MAPT, CBS, FXN
21alanine4410.3HTT, FOXP2, PSEN1, MECP2, AFP, MAPT
22oxygen44 2411.3HTT, FOXP2, PSEN1, ATM, AFP, CBS
23s-adenosylmethionine44 11 2412.3SLC25A20, CBS, PSEN1
24h2o24410.3PSEN1, AFP, MAPT, CBS, SLC6A3
25glutamate4410.3HTT, FOXP2, PSEN1, MECP2, AFP, MAPT
26lipid4410.3HTT, PSEN1, ATM, AFP, CBS, TTPA
27cysteine4410.2HTT, PSEN1, MAPT, CBS, FXN, SLC6A3
28cholesterol44 28 11 2413.2HTT, PSEN1, AFP, CBS, TTPA
29oligonucleotide4410.0HTT, PSEN1, MECP2, AFP, CBS
30cystathionine4410.0CBS, HTT
31serine4410.0HTT, PSEN1, ATM, AFP, MAPT, CBS

GO Terms for genes affiliated with Apraxia

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16Gene Ontology
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Cellular components related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:03042410.2SLC6A3, MAPT, PSEN1, HTT

Biological processes related to Apraxia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proprioceptionGO:01923010.5FXN, MECP2
2positive regulation of axon extensionGO:04577310.5FXN, CDKL5, MAPT
3neuron apoptotic processGO:05140210.4HTT, PSEN1, ATM
4double-strand break repairGO:00630210.4SETX, ATM, APTX
5post-embryonic developmentGO:00979110.3FOXP2, PSEN1, MECP2
6axon cargo transportGO:00808810.3MAPT, HTT
7neuron migrationGO:00176410.3CDKL5, MAPT, PSEN1
8response to iron ionGO:01003910.2SLC6A3, FXN
9negative regulation of neuron apoptotic processGO:04352410.0HTT, PSEN1, MECP2

Molecular functions related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.9SLC6A3, ATM, MECP2, APTX
2protein bindingGO:0055159.6HTT, APTX, NPHP1, PSEN1, MECP2, ATM

Products for genes affiliated with Apraxia

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Sources for Apraxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet