MCID: APR001
MIFTS: 38

Apraxia malady

Rare diseases category

Summaries for Apraxia

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NINDS:42 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 based summary: 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:9 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 is a motor disorder caused by damage to the brain, in which someone has difficulty with the... more...

Aliases & Classifications for Apraxia

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Apraxia, Aliases & Descriptions:

Name: Apraxia 9 41 42 11
Apraxias 43 60
Apraxia, Verbal 60
 
Verbal Apraxia 41
Dyspraxia 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:0060135
ICD1025 R48.2

Related Diseases for Apraxia

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Diseases related to Apraxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 169)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.5APTX, SETX
2galactosemia30.0SLC25A20, AFP
3ataxia with vitamin e deficiency29.9APTX, SETX
4ataxia-telangiectasia29.6SETX, APTX, AFP, MRE11A
5ideomotor apraxia10.8
6ataxia10.8
7aphasia10.7
8ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.7
9corticobasal degeneration10.6
10gait apraxia10.5
11oculomotor apraxia cogan type10.5
12ataxia-ocular apraxia-210.4
13agnosia10.4
14blepharospasm10.4
15dementia10.4
16cerebritis10.4
17primary progressive apraxia of speech10.3
18developmental coordination disorder10.3
19ataxia-oculomotor apraxia 310.3
20wieacker-wolff syndrome10.3
21neuronitis10.2
22rolandic epilepsy - speech dyspraxia10.2
23alzheimer disease10.2
24hydrocephalus10.2
25gaucher's disease10.2
26mental retardation10.1
27coach syndrome10.1
28joubert syndrome 110.1
29rett syndrome10.1
30multiple system atrophy10.1
31nasu-hakola disease10.1
32choreoathetosis, hypothyroidism, and neonatal respiratory distress10.1
33mutism10.1
34developmental dyspraxia10.1
35ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome10.1
36autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome10.1
37x-linked intellectual disability - ataxia - apraxia10.1
38friedreich ataxia10.0SETX, APTX
39orofaciodigital syndrome vi10.0
40joubert syndrome 1510.0
41joubert syndrome 2110.0
42joubert syndrome 610.0
43joubert syndrome 1610.0
44joubert syndrome 210.0
45mitochondrial complex iii deficiency, nuclear type 210.0
46neurodegeneration with brain iron accumulation 110.0
47ataxia-telangiectasia-like disorder10.0
48alzheimer disease, type 310.0
49ataxia, spastic, 5, autosomal recessive10.0
50brain injury10.0

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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Drug clinical trials:

Search ClinicalTrials for Apraxia

Search NIH Clinical Center for Apraxia

Genetic Tests for Apraxia

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Anatomical Context for Apraxia

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MalaCards organs/tissues related to Apraxia:

31
Brain, Testes, Parietal lobe, Eye, Cortex, Subthalamic nucleus, Cerebellum, Spinal cord, Occipital lobe

Animal Models for Apraxia or affiliated genes

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MGI Mouse Phenotypes related to Apraxia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1NPHP1, COPS2, AFP, MRE11A

Publications for Apraxia

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Articles related to Apraxia:

(show top 50)    (show all 641)
idTitleAuthorsYear
1
Right lower limb apraxia in a patient with left supplementary motor area infarction: intactness of the corticospinal tract confirmed by transcranial magnetic stimulation. (25883636)
2015
2
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. (25787807)
2015
3
A case of pathology-proven neuromyelitis optica spectrum disorder with SjAPgren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion. (24986696)
2014
4
Assistive system for people with Apraxia using a Markov decision process. (25160274)
2014
5
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
6
Primary progressive apraxia: a syndrome difficult to categorize. (23588293)
2013
7
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. (24183476)
2013
8
Differential diagnosis between apraxia and dysarthria based on acoustic analysis. (22774423)
2012
9
Non-verbal communication in severe aphasia: influence of aphasia, apraxia, or semantic processing? (21458789)
2012
10
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. (21465257)
2011
11
Computer-Mediated Assessment of Intelligibility in Aphasia and Apraxia of Speech. (22215933)
2011
12
Pure apraxia of speech - a case report -. (22506197)
2011
13
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
14
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. (20869730)
2010
15
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. (20687492)
2010
16
Apraxia. (22810515)
2010
17
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. (19141356)
2009
18
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. (19377860)
2009
19
Scanning your body is different from performing body movements: a double dissociation between body representational neglect and apraxia. (19084546)
2009
20
A model-based approach to understanding apraxia in Corticobasal Syndrome. (19082735)
2009
21
Acquired apraxia of speech: a review. (19008207)
2008
22
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
23
Eyelid opening apraxia in an AIDS patient. (18067181)
2008
24
Visuomotor tracking abilities of speakers with apraxia of speech or conduction aphasia. (18558428)
2008
25
Cognitive approach to the assessment of limb apraxia. (17853141)
2008
26
The sound of actions in apraxia. (19013068)
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
Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. (10449142)
1999
40
Ideomotor apraxia in early Alzheimer's disease: time and accuracy measures. (9853098)
1998
41
The mechanisms for adult-onset apraxia and developmental dyspraxia: an examination and comparison of error patterns. (9127059)
1997
42
Imitating gestures and manipulating a mannikin--the representation of the human body in ideomotor apraxia. (7731541)
1995
43
Ataxia-oculomotor apraxia syndrome. (7782601)
1995
44
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993
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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Search GEO for disease gene expression data for Apraxia.

Pathways for genes affiliated with Apraxia

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Compounds for genes affiliated with Apraxia

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Sources:
43Novoseek
See all sources

Compounds related to Apraxia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1alpha tocopherol439.8SETX, APTX
2vitamin-e439.7SETX, APTX
3mitomycin c438.8AFP, MRE11A

GO Terms for genes affiliated with Apraxia

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Cellular components related to Apraxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.7NPHP1, COPS2, SETX, APTX, AFP, PIK3R5

Biological processes related to Apraxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular response to DNA damage stimulusGO:00069749.3APTX, MRE11A
2cell deathGO:00082199.2PIK3R5, APTX, SETX
3DNA duplex unwindingGO:00325089.0SETX, MRE11A
4double-strand break repairGO:00063028.9SETX, APTX, MRE11A

Molecular functions related to Apraxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:00036909.3APTX, MRE11A

Products for genes affiliated with Apraxia

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
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Sources for Apraxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet