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Motor apraxia

MedGen UID:
66707
•Concept ID:
C0234527
•
Pathologic Function
Synonyms: Apraxia, Motor; Apraxias, Motor; Motor Apraxia; Motor Apraxias
SNOMED CT: Motor apraxia (53863007); Innervation apraxia (53863007); Cortical apraxia (53863007)

Professional guidelines

PubMed

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O
Brain 2011 May;134(Pt 5):1387-99. Epub 2011 Apr 12 doi: 10.1093/brain/awr069. PMID: 21486904

Recent clinical studies

Etiology

Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol 2024 Mar;66(3):379-388. Epub 2023 Aug 18 doi: 10.1111/dmcn.15732. PMID: 37593819
Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B, Glover JN, Weinfeld M
Mech Ageing Dev 2017 Jan;161(Pt A):130-140. Epub 2016 Jul 25 doi: 10.1016/j.mad.2016.07.009. PMID: 27470939Free PMC Article
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O
Adv Exp Med Biol 2010;685:21-33. doi: 10.1007/978-1-4419-6448-9_3. PMID: 20687492
Interventions for motor apraxia following stroke.
West C, Bowen A, Hesketh A, Vail A
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD004132. doi: 10.1002/14651858.CD004132.pub2. PMID: 18254038Free PMC Article

Diagnosis

Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol 2024 Mar;66(3):379-388. Epub 2023 Aug 18 doi: 10.1111/dmcn.15732. PMID: 37593819
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. PMID: 37131188Free PMC Article
Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O
Adv Exp Med Biol 2010;685:21-33. doi: 10.1007/978-1-4419-6448-9_3. PMID: 20687492
Deficits in cortical visual function.
Stasheff SF, Barton JJ
Ophthalmol Clin North Am 2001 Mar;14(1):217-42, x. PMID: 11370568

Therapy

Rehabilitation of Alien Hand Syndrome Complicated by Contralateral Limb Apraxia.
Alvarez A, Weaver M, Alvarez G
Am J Phys Med Rehabil 2020 Oct;99(10):e122-e124. doi: 10.1097/PHM.0000000000001401. PMID: 32251102
Interventions for motor apraxia following stroke.
West C, Bowen A, Hesketh A, Vail A
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD004132. doi: 10.1002/14651858.CD004132.pub2. PMID: 18254038Free PMC Article
Carbamazepine responsive epileptic oral motor and ocular motor apraxia.
Naqvi SZ, Greenwood RS, D'Cruz OF
Neurology 1998 May;50(5):1475-7. doi: 10.1212/wnl.50.5.1475. PMID: 9596012
A case of a rapidly progressive central nervous system disorder manifesting as a pallidal posture and ocular motor apraxia.
Morimoto T, Oguni H, Awaya Y, Hayakawa T, Fukuyama Y
Brain Dev 1985;7(4):449-53. doi: 10.1016/s0387-7604(85)80146-7. PMID: 4061785
Supranuclear ophthalmoplegia in olivopontocerebellar degeneration.
Koeppen AH, Hans MB
Neurology 1976 Aug;26(8):764-8. doi: 10.1212/wnl.26.8.764. PMID: 945871

Prognosis

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G
Pediatr Neurol 2017 Aug;73:101-105. Epub 2017 Apr 29 doi: 10.1016/j.pediatrneurol.2017.04.022. PMID: 28647130
Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis.
Kondo A, Saito Y, Floricel F, Maegaki Y, Ohno K
Brain Dev 2007 Aug;29(7):431-8. Epub 2007 Mar 1 doi: 10.1016/j.braindev.2007.01.002. PMID: 17336010
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M
Neurology 2002 Aug 27;59(4):590-5. doi: 10.1212/wnl.59.4.590. PMID: 12196655
Cerebral ocular motor signs.
Pierrot-Deseilligny C, Gaymard B, Müri R, Rivaud S
J Neurol 1997 Feb;244(2):65-70. doi: 10.1007/s004150050051. PMID: 9120498

Clinical prediction guides

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.
Jeridi C, Rachdi A, Nabli F, Saied Z, Zouari R, Ben Mohamed D, Ben Said M, Masmoudi S, Ben Sassi S, Amouri R
J Neurogenet 2023 Sep-Dec;37(4):124-130. Epub 2023 Dec 18 doi: 10.1080/01677063.2023.2281916. PMID: 38109176
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. PMID: 37131188Free PMC Article
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Kato T, Tamura Y, Matsumoto H, Kobayashi O, Ishiguro H, Ogawa M, Tsujikawa K, Hasegawa Y, Sakamoto M, Konagaya M, Houzen H, Takagi M, Imai K, Morio T, Yokoseki A, Onodera O, Nonoyama S
Clin Immunol 2021 Aug;229:108776. Epub 2021 Jun 9 doi: 10.1016/j.clim.2021.108776. PMID: 34118401
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K
Genet Med 2021 Feb;23(2):341-351. Epub 2020 Oct 7 doi: 10.1038/s41436-020-00979-w. PMID: 33024317Free PMC Article
Cerebral ocular motor signs.
Pierrot-Deseilligny C, Gaymard B, Müri R, Rivaud S
J Neurol 1997 Feb;244(2):65-70. doi: 10.1007/s004150050051. PMID: 9120498

Recent systematic reviews

Interventions for motor apraxia following stroke.
West C, Bowen A, Hesketh A, Vail A
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD004132. doi: 10.1002/14651858.CD004132.pub2. PMID: 18254038Free PMC Article

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