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Episodic quadriplegia

MedGen UID:
350829
Concept ID:
C1863062
Disease or Syndrome; Finding
Synonym: Quadriplegia, episodic
 
HPO: HP:0200072

Definition

Intermittent episodes of paralysis of all four limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpisodic quadriplegia

Conditions with this feature

Alternating hemiplegia of childhood 1
MedGen UID:
762361
Concept ID:
C3549447
Disease or Syndrome
Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992). The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). Genetic Heterogeneity of Alternating Hemiplegia of Childhood See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).
Alternating hemiplegia of childhood 2
MedGen UID:
766702
Concept ID:
C3553788
Disease or Syndrome
ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.

Professional guidelines

PubMed

Fagan K
Clin Sports Med 2004 Jul;23(3):409-19. doi: 10.1016/j.csm.2004.03.003. PMID: 15262379
Kim DH, Vaccaro AR, Berta SC
Clin Sports Med 2003 Jul;22(3):501-12. doi: 10.1016/s0278-5919(02)00105-9. PMID: 12852683

Recent clinical studies

Etiology

Hawa K, Corker L, Hornung L, Noritz G, Gariepy C, Shaikhkhalil A, Abu-El-Haija M
J Pediatr Gastroenterol Nutr 2022 Dec 1;75(6):749-754. Epub 2022 Sep 8 doi: 10.1097/MPG.0000000000003610. PMID: 36084229Free PMC Article
Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC
Ann Clin Transl Neurol 2020 Jun;7(6):1013-1028. Epub 2020 Jun 9 doi: 10.1002/acn3.51074. PMID: 32519519Free PMC Article
Marin JC, Goadsby PJ
Expert Opin Investig Drugs 2010 Apr;19(4):555-61. doi: 10.1517/13543781003691832. PMID: 20218930
Fagan K
Clin Sports Med 2004 Jul;23(3):409-19. doi: 10.1016/j.csm.2004.03.003. PMID: 15262379
Kim DH, Vaccaro AR, Berta SC
Clin Sports Med 2003 Jul;22(3):501-12. doi: 10.1016/s0278-5919(02)00105-9. PMID: 12852683

Diagnosis

Hawa K, Corker L, Hornung L, Noritz G, Gariepy C, Shaikhkhalil A, Abu-El-Haija M
J Pediatr Gastroenterol Nutr 2022 Dec 1;75(6):749-754. Epub 2022 Sep 8 doi: 10.1097/MPG.0000000000003610. PMID: 36084229Free PMC Article
Gutti NB, Kalita J, Pandey PC
Intern Med J 2022 Aug;52(8):1429-1433. doi: 10.1111/imj.15874. PMID: 35973954
Fagan K
Clin Sports Med 2004 Jul;23(3):409-19. doi: 10.1016/j.csm.2004.03.003. PMID: 15262379
Kim DH, Vaccaro AR, Berta SC
Clin Sports Med 2003 Jul;22(3):501-12. doi: 10.1016/s0278-5919(02)00105-9. PMID: 12852683
Bourgeois M, Aicardi J, Goutières F
J Pediatr 1993 May;122(5 Pt 1):673-9. doi: 10.1016/s0022-3476(06)80003-x. PMID: 8496742

Therapy

Gutti NB, Kalita J, Pandey PC
Intern Med J 2022 Aug;52(8):1429-1433. doi: 10.1111/imj.15874. PMID: 35973954
Marin JC, Goadsby PJ
Expert Opin Investig Drugs 2010 Apr;19(4):555-61. doi: 10.1517/13543781003691832. PMID: 20218930
Siroky MB
Am J Med 2002 Jul 8;113 Suppl 1A:67S-79S. doi: 10.1016/s0002-9343(02)01061-6. PMID: 12113873
George A, Bang RL, Lari AR, Gang RK, Kanjoor JR
Burns 2000 Jun;26(4):409-13. doi: 10.1016/s0305-4179(99)00141-2. PMID: 10751710
Chan KF, Boey ML
Lupus 1996 Aug;5(4):294-9. doi: 10.1177/096120339600500409. PMID: 8869901

Prognosis

Hawa K, Corker L, Hornung L, Noritz G, Gariepy C, Shaikhkhalil A, Abu-El-Haija M
J Pediatr Gastroenterol Nutr 2022 Dec 1;75(6):749-754. Epub 2022 Sep 8 doi: 10.1097/MPG.0000000000003610. PMID: 36084229Free PMC Article
Matias AC, Rocha J, Cerqueira ME, Pereira JM
Am J Phys Med Rehabil 2013 May;92(5):453-8. doi: 10.1097/PHM.0b013e3182744889. PMID: 23117272
Kim DH, Vaccaro AR, Berta SC
Clin Sports Med 2003 Jul;22(3):501-12. doi: 10.1016/s0278-5919(02)00105-9. PMID: 12852683
Allen CR, Kang JD
Clin Sports Med 2002 Jan;21(1):15-27. doi: 10.1016/s0278-5919(03)00054-1. PMID: 11877869
George A, Bang RL, Lari AR, Gang RK, Kanjoor JR
Burns 2000 Jun;26(4):409-13. doi: 10.1016/s0305-4179(99)00141-2. PMID: 10751710

Clinical prediction guides

Behera CK, Rup AR, Samal S, Das B
Mol Biol Rep 2022 May;49(5):4155-4160. Epub 2022 May 3 doi: 10.1007/s11033-022-07499-7. PMID: 35505270
Nightingale TE, Eginyan G, Balthazaar SJT, Williams AMM, Lam T, Krassioukov AV
J Spinal Cord Med 2022 Nov;45(6):969-974. Epub 2021 Jan 29 doi: 10.1080/10790268.2020.1871253. PMID: 33513073Free PMC Article
Allen CR, Kang JD
Clin Sports Med 2002 Jan;21(1):15-27. doi: 10.1016/s0278-5919(03)00054-1. PMID: 11877869
Chan KF, Boey ML
Lupus 1996 Aug;5(4):294-9. doi: 10.1177/096120339600500409. PMID: 8869901
Soni BM, Vaidyanthan S, Watt JW, Krishnan KR
Paraplegia 1994 Sep;32(9):597-607. doi: 10.1038/sc.1994.95. PMID: 7997339

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