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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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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MGI Mouse Phenotypes related to Apraxia:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.4SLC6A3, CDKL5, MAPT, HTT
2MP:000537910.1HTT, NPHP1, PSEN1, MECP2, ATM, AFP
3MP:000536910.1PSEN1, MAPT, CBS, TTPA, FXN, SLC6A3
4MP:000539110.1TTPA, CBS, MECP2, NPHP1, FOXP2, PSEN1
5MP:000538010.1CBS, TTPA, FXN, ATM, MECP2, PSEN1
6MP:000538910.0PSEN1, SLC6A3, TTPA, HTT, MECP2, ATM
7MP:00036319.9HTT, FOXP2, PSEN1, MECP2, ATM, MAPT
8MP:00053849.9FXN, COPS2, SLC6A3, CBS, MAPT, ATM
9MP:00053869.9SLC6A3, FOXP2, CBS, PSEN1, MECP2, ATM
10MP:00053789.8MAPT, FXN, HTT, CBS, PSEN1, MECP2
11MP:00030129.7NPHP1, FOXP2, FXN, HTT, MAPT, MECP2
12MP:00053769.7PSEN1, MECP2, AFP, CBS, TTPA, FXN
13MP:00107689.7ATM, COPS2, SLC6A3, FXN, CBS, MAPT

Publications for Apraxia

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50PubMed
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Articles related to Apraxia:

(show top 50)    (show all 586)
idTitleAuthorsYear
1
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. (23339324)
2013
2
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. (23475383)
2013
3
Primary progressive apraxia of speech (AOS) in a patient with Pick's disease with Pick bodies: a neuropsychological and anatomical study and review of literatures. (22500674)
2013
4
Non-verbal communication in severe aphasia: influence of aphasia, apraxia, or semantic processing? (21458789)
2012
5
Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis. (22257070)
2012
6
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. (22766611)
2012
7
A case of Parkinson's disease with apraxia of lid opening and freezing of gait. (22340186)
2011
8
Electrical stimulation over the left inferior frontal gyrus (IFG) determines long-term effects in the recovery of speech apraxia in three chronic aphasics. (21856336)
2011
9
Gaucher's disease with valvular, myocardial and aortic involvement in a patient with oculomotor apraxia. (21220233)
2011
10
The specificity of notation codes in apraxic agraphia: dissociation between Arabic and alphabetical scripts in a patient with severe ideomotor and visuoconstructional apraxia. (20672223)
2011
11
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. (20687492)
2010
12
Coordination deficits in ideomotor apraxia during visually targeted reaching reflect impaired visuomotor transformations. (20875439)
2010
13
Apraxia in Parkinson's disease and multiple system atrophy. (20050896)
2010
14
Vowel acoustics in adults with apraxia of speech. (20008683)
2010
15
Negative motor seizure arising from the negative motor area: is it ictal apraxia? (19453721)
2009
16
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
17
Treatment of childhood apraxia of speech: clinical decision making in the use of nonspeech oral motor exercises. (19058115)
2008
18
Asymmetric responses to repetitive transcranial magnetic stimulation (rTMS) over the left and right primary motor cortex in a patient with lateralized progressive limb-kinetic apraxia. (18450379)
2008
19
Embodiment in communication--aphasia, apraxia and the possible role of mirroring and imitation. (18415730)
2008
20
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. (18625865)
2008
21
Gait and dementia: moving beyond the notion of gait apraxia. (17510733)
2007
22
Progressive apraxia of speech as a sign of motor neuron disease. (17666546)
2007
23
Clinical and anatomical correlates of apraxia of speech. (16516956)
2006
24
Rehabilitation of limb apraxia improves daily life activities in patients with stroke. (17159119)
2006
25
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. (17159128)
2006
26
Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia. (16566884)
2006
27
Vowel patterns in developmental apraxia of speech: three longitudinal case studies. (16019775)
2005
28
Right, left or both? Brain hemispheres and apraxia of naturalistic actions. (15808496)
2005
29
Apraxia of speech: an overview. (16393756)
2005
30
Very late onset in ataxia oculomotor apraxia type I. (15852392)
2005
31
Crossed apraxia of speech: a case report. (15177787)
2004
32
The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. (15380105)
2004
33
Patterns of limb apraxia in primary progressive aphasia. (14607191)
2003
34
Apraxia of eyelid opening in a case of atypical corticobasal degeneration. (14523626)
2003
35
Both parietal lobes are involved in drawing: a functional MRI study and implications for constructional apraxia. (12706214)
2003
36
Apraxia and beyond: life and work of Hugo Liepmann. (12870824)
2003
37
Familial congenital ocular motor apraxia. (12173672)
2002
38
A summary of treatments for apraxia of speech and review of replicated approaches. (12461728)
2002
39
Tactile apraxia: unimodal apractic disorder of tactile object exploration associated with parietal lobe lesions. (11133793)
2001
40
Truncal and limb apraxia in corticobasal degeneration. (11481706)
2001
41
Constructional apraxia in Alzheimer's disease: association with occipital lobe pathology and accelerated cognitive decline. (11351139)
2001
42
Dissociated active and passive tactile shape recognition: a case study of pure tactile apraxia. (11673329)
2001
43
Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. (10449142)
1999
44
Ideomotor apraxia test: a new test of imitation of gestures for elderly people. (10210892)
1998
45
Constructional apraxia in Alzheimer's disease correlates with neuritic neuropathology in occipital cortex. (9001734)
1996
46
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. (7891378)
1994
47
Motor performance in aphasia and ideomotor apraxia. (7532853)
1994
48
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993
49
Spared musical abilities in a conductor with global aphasia and ideomotor apraxia. (2582094)
1985
50
Lesion size and location in ideomotor apraxia. (6206911)
1984

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

Molecular functions related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.9APTX, MECP2, ATM, SLC6A3
2protein bindingGO:0055159.6COPS2, HTT, APTX, NPHP1, PSEN1, MECP2

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