Details of Disease

General Information of Disease (ID: DISULX63)

• Disease Name: Apraxia
• Synonyms: dyspraxia; Apraxias
• Definition: 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.
• Disease Hierarchy:
  DISHEDII: Perceptual disorders
  DISULX63: Apraxia
• Disease Identifiers:
  MONDO ID: MONDO_0000665
  MESH ID: D001072
  UMLS CUI: C0003635
  MedGen ID: 8166
  HPO ID: HP:0002186
  SNOMED CT ID: 68345001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C9orf72	TTA4SHR	Limited	Genetic Variation	[1]
FUS	TTKGYZ9	Limited	Genetic Variation	[2]
GRN	TT0LWE3	Limited	Genetic Variation	[3]
PSEN1	TTZ3S8C	Limited	Genetic Variation	[4]
TREM2	TTQRMSJ	Limited	Genetic Variation	[5]
BCL11A	TTR61MW	Strong	Genetic Variation	[6]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EBF3	OTB0IWLW	Limited	CausalMutation	[7]
FOXP2	OTVX6A59	Limited	Biomarker	[8]
SUFU	OT0IRYG1	Limited	Autosomal dominant	[9]
SRPX2	OT6A63TX	Disputed	Biomarker	[10]
APTX	OTPAS5G8	Strong	Genetic Variation	[11]
PHLDA2	OTMV9DPP	Strong	Genetic Variation	[12]

References

• [1] Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):8-15. doi: 10.3109/21678421.2014.959450. Epub 2014 Oct 6.
• [2] Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.J Clin Neurosci. 2012 Dec;19(12):1738-9. doi: 10.1016/j.jocn.2012.04.003. Epub 2012 Sep 19.
• [3] A Novel Loss-of-Function GRN Mutation p.(Tyr229*):Clinical and Neuropathological Features.J Alzheimers Dis. 2017;55(3):1167-1174. doi: 10.3233/JAD-160647.
• [4] Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.Neurotox Res. 2014 Oct;26(3):211-5. doi: 10.1007/s12640-014-9462-3. Epub 2014 Apr 16.
• [5] Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.Neurobiol Aging. 2014 Dec;35(12):2681-2690. doi: 10.1016/j.neurobiolaging.2014.06.007. Epub 2014 Jun 17.
• [6] BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.Am J Med Genet A. 2018 Jan;176(1):201-208. doi: 10.1002/ajmg.a.38479. Epub 2017 Sep 27.
• [7] A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
• [8] Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016.
• [9] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [10] SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23.
• [11] A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.J Neurol Sci. 2007 Sep 15;260(1-2):219-24. doi: 10.1016/j.jns.2007.05.015. Epub 2007 Jun 18.
• [12] Recovery from apraxic deficits and its neural correlate.Restor Neurol Neurosci. 2018;36(6):669-678. doi: 10.3233/RNN-180815.