MCID: APR001
MIFTS: 44

Apraxia malady

Rare diseases, Fetal diseases categories
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Summaries for Apraxia

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8Disease Ontology, 44NINDS, 65Wikipedia, 33MalaCards
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NINDS:44 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 cerebellar ataxia and galactosemia. An important gene associated with Apraxia is APTX (aprataxin). The compounds alpha tocopherol and vitamin-e have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and parietal lobe, and related mouse phenotype reproductive system.

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:65 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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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 62UMLS, 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 144)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.4APTX, SETX
2galactosemia30.1AFP, SLC25A20
3ataxia telangiectasia30.0SETX, MRE11A, AFP, APTX
4ataxia with vitamin e deficiency29.8SETX, APTX
5ideomotor apraxia10.8
6ataxia10.8
7childhood apraxia of speech10.7
8aphasia10.7
9early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.6
10corticobasal degeneration10.6
11gait apraxia10.5
12ataxia with oculomotor apraxia type 210.5
13agnosia10.4
14progressive supranuclear palsy10.4
15ataxia with oculomotor apraxia type 110.4
16alzheimer's disease10.4
17parkinson's disease10.4
18blepharospasm10.4
19cerebritis10.4
20dementia10.3
21oculomotor apraxia cogan type10.3
22spinocerebellar ataxia autosomal recessive 110.3
23ocular motor apraxia, cogan type10.3
24developmental coordination disorder10.3
25primary progressive aphasia10.3
26rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked10.3
27neuronitis10.2
28huntington's disease10.2
29primary progressive apraxia of speech10.2
30rolandic epilepsy, mental retardation, and speech dyspraxia10.2
31hydrocephalus10.2
32mental retardation10.1
33mutism10.1
34multiple system atrophy10.1
35gaucher's disease10.0
36lateral sclerosis10.0
37normal pressure hydrocephalus10.0
38rett syndrome10.0
39pick's disease10.0
40dysgraphia10.0
41nephronophthisis10.0
42anterior cerebral artery infarction10.0
43joubert syndrome10.0
44amyotrophic lateral sclerosis10.0
45dystonia10.0
46motor neuron disease10.0
47multiple sclerosis10.0
48wieacker syndrome10.0
49brain injury10.0
50developmental dyspraxia10.0

Graphical network of the top 20 diseases related to Apraxia:



Diseases related to apraxia

Symptoms for Apraxia

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Drugs & Therapeutics for Apraxia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Apraxia:

33
Brain, Testes, Parietal lobe, Eye, Cortex, Subthalamic nucleus, Spinal cord, Occipital lobe

Animal Models for Apraxia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Apraxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1NPHP1, COPS2, AFP, MRE11A

Publications for Apraxia

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52PubMed
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Articles related to Apraxia:

(show top 50)    (show all 582)
idTitleAuthorsYear
1
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
2
Primary progressive apraxia: a syndrome difficult to categorize. (23588293)
2013
3
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. (24183476)
2013
4
Apraxia and Alzheimer's disease: review and perspectives. (23904110)
2013
5
Orofacial apraxia in motor neuron disease. (23569452)
2013
6
Differential diagnosis between apraxia and dysarthria based on acoustic analysis. (22774423)
2012
7
Non-verbal communication in severe aphasia: influence of aphasia, apraxia, or semantic processing? (21458789)
2012
8
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. (21465257)
2011
9
Computer-Mediated Assessment of Intelligibility in Aphasia and Apraxia of Speech. (22215933)
2011
10
Pure apraxia of speech - a case report -. (22506197)
2011
11
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
12
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. (20869730)
2010
13
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. (20687492)
2010
14
Apraxia. (22810515)
2010
15
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. (19141356)
2009
16
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. (19377860)
2009
17
Scanning your body is different from performing body movements: a double dissociation between body representational neglect and apraxia. (19084546)
2009
18
A model-based approach to understanding apraxia in Corticobasal Syndrome. (19082735)
2009
19
Acquired apraxia of speech: a review. (19008207)
2008
20
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
21
Eyelid opening apraxia in an AIDS patient. (18067181)
2008
22
Visuomotor tracking abilities of speakers with apraxia of speech or conduction aphasia. (18558428)
2008
23
Cognitive approach to the assessment of limb apraxia. (17853141)
2008
24
The sound of actions in apraxia. (19013068)
2008
25
Eyelid apraxia associated with bilateral paramedian thalamic infarct. (18270247)
2008
26
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)
2008
27
Consonant and syllable structure patterns in childhood apraxia of speech: developmental change in three children. (16469328)
2006
28
Interactions between volitional and automatic breathing during respiratory apraxia. (16185939)
2006
29
Clinical and anatomical correlates of apraxia of speech. (16516956)
2006
30
New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)
2005
31
Improvement of apraxia of lid opening by STN-stimulation in a 70-year-old patient with Parkinson's disease. A case report. (15100935)
2004
32
Defective pantomime of object use in left brain damage: apraxia or asymbolia? (12887981)
2003
33
Cognitive representations of hand posture in ideomotor apraxia. (12667544)
2003
34
Limb-kinetic apraxia in corticobasal degeneration: clinical and kinematic features. (12518300)
2003
35
Apraxia of eyelid opening secondary to a dominant hemispheric infarction. (11993536)
2002
36
Cortical and subcortical contributions to ideomotor apraxia: analysis of task demands and error types. (11701604)
2001
37
The use of a digital voice output device to facilitate language development in a child with developmental apraxia of speech: a case study. (11697460)
2001
38
Combined semantic dementia and apraxia in a patient with frontotemporal lobar degeneration. (11090722)
2000
39
Ideomotor apraxia in early Alzheimer's disease: time and accuracy measures. (9853098)
1998
40
The mechanisms for adult-onset apraxia and developmental dyspraxia: an examination and comparison of error patterns. (9127059)
1997
41
Imitating gestures and manipulating a mannikin--the representation of the human body in ideomotor apraxia. (7731541)
1995
42
Ataxia-oculomotor apraxia syndrome. (7782601)
1995
43
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993
44
Multiple learning tasks in patients with ideomotor apraxia. (1887197)
1991
45
Ideomotor apraxia: evidence for the preservation of axial commands. (2454297)
1988
46
Axial movements in ideomotor apraxia. (6186771)
1982
47
Gait apraxia in communicating hydrocephalus. (7241157)
1981
48
Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. (7191528)
1980
49
Clumsy children: developmental apraxia and agnosia. (13998739)
1962
50
Aphasia, apraxia, and agnosia; a new classification. (21017997)
1946

Variations for Apraxia

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Expression for genes affiliated with Apraxia

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2BioGPS, 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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Compounds for genes affiliated with Apraxia

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45Novoseek
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Compounds related to Apraxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha tocopherol459.8SETX, APTX
2vitamin-e459.7SETX, APTX
3mitomycin c458.8AFP, MRE11A

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
1cytoplasmGO:0057377.7NPHP1, COPS2, SETX, APTX, AFP, PIK3R5

Biological processes related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to DNA damage stimulusGO:0069749.3APTX, MRE11A
2cell deathGO:0082199.2PIK3R5, APTX, SETX
3DNA duplex unwindingGO:0325089.0SETX, MRE11A
4double-strand break repairGO:0063028.9SETX, APTX, MRE11A

Molecular functions related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.3APTX, MRE11A

Products for genes affiliated with Apraxia

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Sources for Apraxia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet