MCID: APR001
MIFTS: 51

Apraxia malady

Categories: Rare diseases, Mental diseases

Aliases & Classifications for Apraxia

Summaries for Apraxia

NIH Rare Diseases : 50 apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. it is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. in some cases it is present from birth. there are several types of apraxia, which may occur alone or together. these include:buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. this may include licking the lips, sticking out the tongue, whistling, coughing, or winking. ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. this may include dressing, eating, and bathing. ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. this may include buttoning a shirt or tying a shoe.  verbal apraxia is difficulty coordinating mouth and speech movements. verbal apraxia may be acquired or present from birth. constructional apraxia is the inability to copy, draw, or construct simple figures. oculomotor apraxia is difficulty moving the eyes on command. treatment of apraxia may include physical, speech, or occupational therapy. if apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. last updated: 1/4/2016

MalaCards based summary : Apraxia, also known as apraxias, is related to coenzyme q10 deficiency, primary, 1 and ideomotor apraxia, and has symptoms including cachexia, cyanosis and dyspnea. An important gene associated with Apraxia is APTX (Aprataxin), and among its related pathways/superpathways is Canonical NF-kappaB pathway. The drugs Acetylcholine and Tolvaptan have been mentioned in the context of this disorder. Affiliated tissues include brain, parietal lobe and cortex, and related phenotypes are Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor and cellular

Disease Ontology : 12 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

NINDS : 51 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.

Wikipedia : 71 Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex),... more...

Related Diseases for Apraxia

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

(show top 50) (show all 170)
id Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 1 31.0 APOE GRN MAPT
2 ideomotor apraxia 12.3
3 childhood apraxia of speech 12.2
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.2
5 ocular motor apraxia 12.2
6 rolandic epilepsy, mental retardation, and speech dyspraxia 12.1
7 ataxia-oculomotor apraxia 3 12.1
8 ataxia-oculomotor apraxia 4 12.1
9 gait apraxia 12.0
10 primary progressive apraxia of speech 11.8
11 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 11.7
12 x-linked intellectual disability-ataxia-apraxia syndrome 11.7
13 spinocerebellar ataxia, autosomal recessive 1 11.6
14 agnosia 11.4
15 foxp2-related speech and language disorders 11.4
16 balint syndrome 11.3
17 poretti-boltshauser syndrome 11.3
18 ataxia-telangiectasia 11.1
19 corticobasal degeneration 11.1
20 wieacker-wolff syndrome 11.0
21 agraphia 10.9
22 alzheimer disease, type 3 10.9
23 intellectual disability-developmental delay-contractures syndrome 10.8
24 spinocerebellar ataxia with axonal neuropathy type 2 10.8
25 joubert syndrome 16 10.8
26 joubert syndrome 2 10.8
27 joubert syndrome 15 10.8
28 joubert syndrome 21 10.8
29 joubert syndrome 6 10.8
30 joubert syndrome 1 10.8
31 mitochondrial complex iii deficiency, nuclear type 2 10.8
32 ataxia, spastic, 5, autosomal recessive 10.8
33 joubert syndrome 25 10.8
34 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 10.7
35 joubert syndrome-3 10.6
36 joubert syndrome 13 10.6
37 pick disease 10.6
38 acrocallosal syndrome 10.6
39 joubert syndrome 4 10.6
40 nephronophthisis 14 10.6
41 nephronophthisis 12 10.6
42 joubert syndrome 7 10.6
43 simultanagnosia 10.6
44 joubert syndrome 22 10.6
45 joubert syndrome 20 10.6
46 joubert syndrome 8 10.6
47 joubert syndrome 18 10.6
48 joubert syndrome 9 10.6
49 joubert syndrome 24 10.6
50 ataxia-telangiectasia-like disorder 10.6

Graphical network of the top 20 diseases related to Apraxia:



Diseases related to Apraxia

Symptoms & Phenotypes for Apraxia

UMLS symptoms related to Apraxia:


cachexia, cyanosis, dyspnea, edema, fever, headache, icterus, muscle rigidity, seizures, signs and symptoms, signs and symptoms, digestive, syncope, torticollis, vertigo, clumsiness, abnormality of extrapyramidal motor function, reduced consciousness/confusion, other symbolic dysfunction, hot flushes, symptoms

GenomeRNAi Phenotypes related to Apraxia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.62 ATM PNKP

MGI Mouse Phenotypes related to Apraxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 APOE APTX ATM C9orf72 CNTNAP2 GRN
2 no phenotypic analysis MP:0003012 9.43 GRN MAPT NPHP1 APOE C9orf72 ERC1
3 taste/olfaction MP:0005394 8.8 APOE CNTNAP2 MAPT

Drugs & Therapeutics for Apraxia

Drugs for Apraxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Tolvaptan Approved Phase 4 150683-30-0 216237
3 Cholinergic Agents Phase 4
4 Neurotransmitter Agents Phase 4,Phase 2
5 abobotulinumtoxinA Phase 4
6 incobotulinumtoxinA Phase 4
7 onabotulinumtoxinA Phase 4
8 Botulinum Toxins Phase 4
9 Botulinum Toxins, Type A Phase 4
10 Liver Extracts Phase 4
11 Natriuretic Agents Phase 4
12 Hormones Phase 4
13 Vasopressins Phase 4
14 Arginine Vasopressin Phase 4
15
Ethanol Approved Phase 3 64-17-5 702
16
Glycerol Approved, Experimental Phase 3 56-81-5 753
17 Ubiquinone Phase 3
18 Complement System Proteins Phase 3
19 Trace Elements Phase 3
20 Vitamins Phase 3
21 Micronutrients Phase 3
22 Lecithin Nutraceutical Phase 3
23
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
24
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
25
Memantine Approved, Investigational Phase 2 19982-08-2 4054
26
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
27 tannic acid Approved, Nutraceutical Phase 2
28 Dopamine Agents Phase 2
29 Excitatory Amino Acid Antagonists Phase 2
30 Excitatory Amino Acids Phase 2
31 Antiparkinson Agents Phase 2
32
Corticosterone Phase 1 50-22-6 5753
33 Deoxyglucose Phase 1
34 Fluorodeoxyglucose F18 Phase 1
35
Menthol Approved 2216-51-5 16666
36
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
37 vitamin d
38 Ergocalciferols
39 Bone Density Conservation Agents
40 Vitamin D2 Nutraceutical
41 Calciferol Nutraceutical

Interventional clinical trials:

(show all 50)
id Name Status NCT ID Phase
1 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
2 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4
3 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
4 Electrical Polarization of the Brain in Corticobasal Syndrome Completed NCT00273897 Phase 2
5 A Safety and Tolerability Study of JNJ-54861911 in Participants With Early Alzheimer's Disease Completed NCT02260674 Phase 2
6 A Multi-site Double-blind Placebo-controlled Trial of Memantine Versus Placebo in Children With Autism (MEM) Completed NCT01372449 Phase 2
7 Evaluating Anodal tDCS Preceding Aphasia Therapy Recruiting NCT02249819 Phase 1, Phase 2
8 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2
9 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1
10 Apraxia of Speech: Comparison of EPG Treatment (Tx) and Sound Production Treatment (SPT) Recruiting NCT02554513 Phase 1
11 Intervention on Caregivers Caring for Patients Poststroke With Upper Limb Apraxia Unknown status NCT02307019
12 Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD)) Unknown status NCT01993628
13 Action Observation Treatment (AOT) as a Rehabilitation Tool Unknown status NCT02235350
14 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
15 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
16 Study of Adherence and Effects of Balance Exercices (SIEL BLEU Associatio) Unknown status NCT01314638
17 Rehabilitation Combined With Bihemispherictranscranial Direct Current Stimulation in Subacute Ischemic Stroke Unknown status NCT01644929
18 Cognitive Assessment for Stroke Patients: Reproductibility and Validity Study Unknown status NCT01904799
19 EEG and EMG Analysis of Ideomotor Apraxia Completed NCT00024999
20 Auditory Masking Effects on Speech Fluency in Aphasia and Apraxia of Speech Completed NCT02094014
21 Occupational Therapy in Patients With Multiple Sclerosis Completed NCT01507636
22 Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program Completed NCT01097161
23 Using fMRI to Understand the Roles of Brain Areas for Fine Hand Movements Completed NCT00063115
24 Gait and Alzheimer Interaction Tracking (GAIT) Study Completed NCT01315717
25 Orientation Agnosia: Clinical and Anatomical Study Completed NCT01304576
26 Clinical Findings in General Paresis Completed NCT00921648
27 Upper Limbs Intervention in Multiple Sclerosis Completed NCT02047825
28 Deep Brain Stimulation for Patients With Dementia With Lewy Bodies Completed NCT02263937
29 Treatment Intensity - Apraxia of Speech Recruiting NCT02332915
30 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661
31 Brain Biomarkers of Response to Treatment for Apraxia of Speech Recruiting NCT02046941
32 Evaluation of Intensive Language Therapy Recruiting NCT02935842
33 Memory for Action in Neurological Patients Recruiting NCT02844855
34 Alzheimer's Disease and Related Disorders Recruiting NCT01315704
35 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
36 Build-up of Action Representation in Autism Spectrum Disorders Recruiting NCT03108976
37 Language and Motricity in Preterm School Age Children Recruiting NCT02811029
38 Gait as Predictor of Dementia and Falls. The Gait and Brain Cohort Study Recruiting NCT03020381
39 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
40 Blepharospasm Tools Recruiting NCT02780336
41 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Recruiting NCT03120013
42 Functional Rehabilitation of Upper Limb Apraxia in Patients Poststroke Active, not recruiting NCT02199093
43 Treatments of Acquired Apraxia of Speech Active, not recruiting NCT01483807
44 A Novel Treatment for Aphasia and Apraxia of Speech : Measurement of Outcomes Active, not recruiting NCT01979159
45 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
46 Exploring the Impact and Feasibility of a Pathway to Sport and Long-term Participation in Young People Enrolling by invitation NCT02517333
47 Transcranial Magnetic Stimulation (TMS) for Primary Progressive Apraxia of Speech (PPAOS) Not yet recruiting NCT03028324
48 Rehabilitation Gaming System for Cerebral Palsy Not yet recruiting NCT02938754
49 Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540
50 Central Mechanisms in Speech Motor Control Studied With H215O PET Terminated NCT00001308

Search NIH Clinical Center for Apraxia

Genetic Tests for Apraxia

Genetic tests related to Apraxia:

id Genetic test Affiliating Genes
1 Apraxia 29

Anatomical Context for Apraxia

MalaCards organs/tissues related to Apraxia:

39
Brain, Parietal Lobe, Cortex, Eye, Tongue, Testes, Subthalamic Nucleus

Publications for Apraxia

Articles related to Apraxia:

(show top 50) (show all 731)
id Title Authors Year
1
Apraxia of speech and cerebellar mutism syndrome: a case report. ( 28074148 )
2017
2
Callosal ideomotor apraxia in Alzheimer's disease. ( 27829324 )
2017
3
Combined aphasia and apraxia of speech treatment (CAAST): Systematic replications in the development of a novel treatment. ( 28084854 )
2017
4
Erratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. ( 28079319 )
2017
5
Response to Letter Regarding Article, "Damage to the Left Precentral Gyrus Is Associated With Apraxia of Speech in Acute Stroke". ( 26965848 )
2016
6
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. ( 26811093 )
2016
7
Childhood apraxia of speech: A survey of praxis and typical speech characteristics. ( 27241138 )
2016
8
Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task. ( 27750297 )
2016
9
Apraxia of eyelid closure in a case of post-Japanese encephalitis Parkinsonism. ( 27147166 )
2016
10
Ideomotor limb apraxia as a staging tool in individuals with Alzheimer's disease (ILIAD). ( 27901517 )
2016
11
The Use of Electropalatography in the Treatment of Acquired Apraxia of Speech. ( 27997947 )
2016
12
The magnetic apraxia of Denny-Brown. ( 27502963 )
2016
13
Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech. ( 27104903 )
2016
14
Limb-kinetic apraxia affects activities of daily living in Parkinson's disease: a multi-center study. ( 27132653 )
2016
15
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26763793 )
2016
16
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech. ( 27707700 )
2016
17
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. ( 27161038 )
2016
18
Ideomotor Apraxia Due to Injury of the Superior Longitudinal Fasciculus: A Case Report. ( 27003199 )
2016
19
Reliability and Validity of Korean Version of Apraxia Screen of TULIA (K-AST). ( 27847706 )
2016
20
Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4. ( 26970421 )
2016
21
Frontalis suspension surgery to treat patients with blepharospasm and eyelid opening apraxia: long-term results. ( 27816991 )
2016
22
Bridging the Gap Between Speech and Language: Using Multimodal Treatment in a Child With Apraxia. ( 27492818 )
2016
23
Callosal apraxia: a 34-year follow-up study. ( 26928117 )
2016
24
Improved Necker Cube Drawing-Based Assessment Battery for Constructional Apraxia: The Mie Constructional Apraxia Scale (MCAS). ( 27790241 )
2016
25
Primary Progressive Orofacial Apraxia: AA Ten-Year Long Follow-Up Case Report. ( 27567870 )
2016
26
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. ( 27054461 )
2016
27
Dysfunction of the Human Mirror Neuron System in Ideomotor Apraxia: Evidence from Mu Suppression. ( 26942323 )
2016
28
Utility of testing for apraxia and associated features in dementia. ( 27251676 )
2016
29
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. ( 27120335 )
2016
30
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
31
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. ( 27473762 )
2016
32
Self-Judgments of Word Production Accuracy in Acquired Apraxia of Speech. ( 27997948 )
2016
33
Letter by Terao et al Regarding Article, "Damage to the Left Precentral Gyrus Is Associated With Apraxia of Speech in Acute Stroke". ( 26965850 )
2016
34
Treatments and technologies in the rehabilitation of apraxia and action disorganisation syndrome: A review. ( 27314872 )
2016
35
Motor Speech Apraxia in a 70-Year-Old Man with Left Dorsolateral Frontal Arachnoid Cyst: A [(18)F]FDG PET-CT Study. ( 28003922 )
2016
36
Shared neural correlates of limb apraxia in early stages of Alzheimer's dementia and behavioural variant frontotemporal dementia. ( 27639684 )
2016
37
Progressive apraxia of speech in a patient with a C9orf72 mutation. ( 27166164 )
2016
38
Recovering With Acquired Apraxia of Speech: The First 2 Years. ( 27997946 )
2016
39
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ( 26833960 )
2016
40
When the left brain's away, the right will play - Emergent artistic proficiency in primary progressive apraxia of speech. ( 26775758 )
2016
41
Balance impairment does not necessarily coexist with gait apraxia in mild and moderate Alzheimer's disease. ( 27332069 )
2016
42
Brain damage associated with apraxia of speech: evidence from case studies. ( 27264534 )
2016
43
Expanding the ataxia with oculomotor apraxia type 4 phenotype. ( 27066586 )
2016
44
Post-stroke pure apraxia of speech - A rare experience. ( 27591108 )
2016
45
Alternating hemiparesis and orolingual apraxia as manifestations of methotrexate neurotoxicity in a paediatric case of acute lymphoblastic leukaemia. ( 27113788 )
2016
46
Perceptual decisions regarding object manipulation are selectively impaired in apraxia or when tDCS is applied over the left IPL. ( 27109034 )
2016
47
Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach. ( 27882295 )
2016
48
Limb-Kinetic Apraxia Due to Injury of the Corticofugal Tract from the Secondary Motor Area in a Stroke Patient. ( 26945225 )
2016
49
The clinical assessment of apraxia. ( 26984951 )
2016
50
Clinical and MRI models predicting amyloid deposition in progressive aphasia and apraxia of speech. ( 26937376 )
2016

Variations for Apraxia

Expression for Apraxia

Search GEO for disease gene expression data for Apraxia.

Pathways for Apraxia

Pathways related to Apraxia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.98 ATM ERC1

GO Terms for Apraxia

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 APOE APTX ATM C9orf72 CBS CEP104
2 cell projection GO:0042995 9.35 CEP104 CNTNAP2 MAPT NPHP1 SETX
3 axolemma GO:0030673 8.62 CNTNAP2 MAPT

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

id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 APTX ATM PNKP SETX
2 DNA repair GO:0006281 9.56 APTX ATM PNKP SETX
3 positive regulation of neuron death GO:1901216 9.32 ATM MAPT
4 vocal learning GO:0042297 9.16 CNTNAP2 FOXP2
5 regulation of autophagy GO:0010506 9.13 ATM C9orf72 MAPT
6 lipoprotein catabolic process GO:0042159 8.62 APOE ATM

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 APOE APTX ATM C9orf72 CBS CEP104
2 lipoprotein particle binding GO:0071813 8.62 APOE MAPT

Sources for Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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