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Ataxic cerebral palsy(ACP)

MedGen UID:
95998
Concept ID:
C0394005
Disease or Syndrome
Synonym: ACP
SNOMED CT: Ataxic infantile cerebral palsy (278512001); Ataxic cerebral palsy (278512001)
 
Monarch Initiative: MONDO:0000397
OMIM®: 605388

Definition

A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. [from SNOMEDCT_US]

Clinical features

From HPO
Cerebral palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxic cerebral palsy

Professional guidelines

Recent clinical studies

Etiology

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Musselman KE, Stoyanov CT, Marasigan R, Jenkins ME, Konczak J, Morton SM, Bastian AJ
Neurology 2014 Jan 7;82(1):80-9. Epub 2013 Nov 27 doi: 10.1212/01.wnl.0000438224.25600.6c. PMID: 24285620Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article
McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF
Eur J Hum Genet 2000 Apr;8(4):267-72. doi: 10.1038/sj.ejhg.5200445. PMID: 10854109
Miller G
Arch Dis Child 1989 Apr;64(4):557-62. doi: 10.1136/adc.64.4.557. PMID: 2751330Free PMC Article

Diagnosis

Horber V, Andersen GL, Arnaud C, De La Cruz J, Dakovic I, Greitane A, Hensey O, Himmelmann K, Hollody K, Horridge K, Künzle CT, Marcelli M, Ortibus E, Papavasiliou A, Perra O, Platt MJ, Rackauskaite G, Sigurdardottir S, Troha Gergeli A, Virella D, Krägeloh-Mann I, Sellier E
Neurology 2023 Dec 12;101(24):e2509-e2521. Epub 2023 Oct 19 doi: 10.1212/WNL.0000000000207851. PMID: 37857495Free PMC Article
Benevides ML, França M Jr
Neuropediatrics 2022 Oct;53(5):358-360. Epub 2022 May 11 doi: 10.1055/a-1849-8128. PMID: 35545114
Dan B
Dev Med Child Neurol 2020 Mar;62(3):264. doi: 10.1111/dmcn.14453. PMID: 32010973
Musselman KE, Stoyanov CT, Marasigan R, Jenkins ME, Konczak J, Morton SM, Bastian AJ
Neurology 2014 Jan 7;82(1):80-9. Epub 2013 Nov 27 doi: 10.1212/01.wnl.0000438224.25600.6c. PMID: 24285620Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Therapy

Zeng J, Hao S, Wang Y, Liu Q
Medicine (Baltimore) 2023 Dec 15;102(50):e35223. doi: 10.1097/MD.0000000000035223. PMID: 38115343Free PMC Article
Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Martakis K, Stark C, Alberg E, Bossier C, Semler O, Schönau E, Duran I
Klin Padiatr 2019 Nov;231(6):304-312. Epub 2019 Nov 13 doi: 10.1055/a-1001-2284. PMID: 31724139
Odman P, Krevers B, Oberg B
Dev Med Child Neurol 2007 Feb;49(2):93-100. doi: 10.1111/j.1469-8749.2007.00093.x. PMID: 17253994

Prognosis

Lee YK, Daito Y, Katayama Y, Minami H, Negishi H
Pediatr Int 2009 Dec;51(6):795-9. Epub 2009 Apr 3 doi: 10.1111/j.1442-200X.2009.02878.x. PMID: 19419529
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article
Beckung E, Hagberg G, Uldall P, Cans C; Surveillance of Cerebral Palsy in Europe
Pediatrics 2008 Jan;121(1):e187-92. Epub 2007 Dec 10 doi: 10.1542/peds.2007-0068. PMID: 18070932
Miller G, Cala LA
Neuropediatrics 1989 May;20(2):84-9. doi: 10.1055/s-2008-1071271. PMID: 2739880
Kitchen W, Ford G, Orgill A, Rickards A, Astbury J, Lissenden J, Bajuk B, Yu V, Drew J, Campbell N
J Pediatr 1987 Nov;111(5):761-6. doi: 10.1016/s0022-3476(87)80264-0. PMID: 2959764

Clinical prediction guides

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Seyyar GK, Aras B, Aras O
Percept Mot Skills 2019 Oct;126(5):815-827. Epub 2019 Jun 24 doi: 10.1177/0031512519858275. PMID: 31234723
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article
McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF
Eur J Hum Genet 2000 Apr;8(4):267-72. doi: 10.1038/sj.ejhg.5200445. PMID: 10854109
Miller G, Cala LA
Neuropediatrics 1989 May;20(2):84-9. doi: 10.1055/s-2008-1071271. PMID: 2739880

Recent systematic reviews

Musselman KE, Stoyanov CT, Marasigan R, Jenkins ME, Konczak J, Morton SM, Bastian AJ
Neurology 2014 Jan 7;82(1):80-9. Epub 2013 Nov 27 doi: 10.1212/01.wnl.0000438224.25600.6c. PMID: 24285620Free PMC Article

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

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