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Abnormal reflex

MedGen UID:
19707
Concept ID:
C0034933
Finding
Synonyms: Abnormal Reflex; Abnormal Reflexes; Reflex, Abnormal; Reflexes, Abnormal
SNOMED CT: Abnormal reflex (46670006)
 
HPO: HP:0031826

Definition

Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). [from HPO]

Conditions with this feature

Brody myopathy
MedGen UID:
371441
Concept ID:
C1832918
Disease or Syndrome
Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).

Professional guidelines

PubMed

Somasundaram S, Henke C, Neumann-Haefelin T, Isenmann S, Hattingen E, Lorenz MW, Singer OC
Cerebrovasc Dis 2014;37(3):217-22. Epub 2014 Mar 5 doi: 10.1159/000358118. PMID: 24642763
JAIN SP, DEVADIGA KV
J Indian Med Assoc 1964 Aug 16;43:172-6. PMID: 14194416

Recent clinical studies

Etiology

DePalma MG
JAAPA 2020 Aug;33(8):8-11. doi: 10.1097/01.JAA.0000684112.91641.4c. PMID: 32740106
Kuwabara S, Sekiguchi Y, Misawa S
Clin Neurophysiol 2017 Jan;128(1):215-219. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.009. PMID: 27923188
Dreissen YE, Bakker MJ, Koelman JH, Tijssen MA
Clin Neurophysiol 2012 Jan;123(1):34-44. Epub 2011 Oct 26 doi: 10.1016/j.clinph.2011.09.022. PMID: 22033030
Bhidayasiri R, Truong DD
Handb Clin Neurol 2011;100:421-30. doi: 10.1016/B978-0-444-52014-2.00032-X. PMID: 21496599
Zafeiriou DI
Pediatr Neurol 2004 Jul;31(1):1-8. doi: 10.1016/j.pediatrneurol.2004.01.012. PMID: 15246484

Diagnosis

Cowan H, Lakra C, Desai M
BMJ 2020 Oct 2;371:m3596. doi: 10.1136/bmj.m3596. PMID: 33008797
Morice AH
NPJ Prim Care Respir Med 2016 Mar 3;26:16012. doi: 10.1038/npjpcrm.2016.12. PMID: 26937873Free PMC Article
Fritz D, Musial MK
Home Healthc Now 2016 Jan;34(1):16-22. doi: 10.1097/NHH.0000000000000331. PMID: 26645839
Scanlon A, Maffei J
J Neurosci Nurs 2009 Jun;41(3):140-7. doi: 10.1097/jnn.0b013e3181a39481. PMID: 19517764
McLaughlin C, Levin AV
Pediatr Emerg Care 2006 Feb;22(2):137-40. doi: 10.1097/01.pec.0000199567.87134.81. PMID: 16481935

Therapy

Bösel J, Niesen WD, Salih F, Morris NA, Ragland JT, Gough B, Schneider H, Neumann JO, Hwang DY, Kantamneni P, James ML, Freeman WD, Rajajee V, Rao CV, Nair D, Benner L, Meis J, Klose C, Kieser M, Suarez JI, Schönenberger S, Seder DB; SETPOINT2 and the IGNITE Study Groups
JAMA 2022 May 17;327(19):1899-1909. doi: 10.1001/jama.2022.4798. PMID: 35506515Free PMC Article
DePalma MG
JAAPA 2020 Aug;33(8):8-11. doi: 10.1097/01.JAA.0000684112.91641.4c. PMID: 32740106
Roussos AP, Hirsch AR
Headache 2014 Feb;54(2):378-82. Epub 2013 Apr 1 doi: 10.1111/head.12091. PMID: 23551212
Moya A, Roca-Luque I, Francisco-Pascual J, Perez-Rodón J, Rivas N
Cardiol Clin 2013 Feb;31(1):131-42. doi: 10.1016/j.ccl.2012.10.001. PMID: 23217694
Friedlander WJ
Prog Neurol Psychiatry 1967;22:217-47. doi: 10.1016/b978-1-4831-9662-6.50013-5. PMID: 4386764

Prognosis

Kuwabara S, Sekiguchi Y, Misawa S
Clin Neurophysiol 2017 Jan;128(1):215-219. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.009. PMID: 27923188
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article
Teener JW
Semin Neurol 2012 Nov;32(5):512-6. Epub 2013 May 15 doi: 10.1055/s-0033-1334470. PMID: 23677659
Zafeiriou DI
Pediatr Neurol 2004 Jul;31(1):1-8. doi: 10.1016/j.pediatrneurol.2004.01.012. PMID: 15246484
Dunkley EJ, Isbister GK, Sibbritt D, Dawson AH, Whyte IM
QJM 2003 Sep;96(9):635-42. doi: 10.1093/qjmed/hcg109. PMID: 12925718

Clinical prediction guides

Asci F, Falletti M, Zampogna A, Patera M, Hallett M, Rothwell J, Suppa A
Brain 2023 Sep 1;146(9):3705-3718. doi: 10.1093/brain/awad114. PMID: 37018058Free PMC Article
Plutino A, Baldinelli S, Fiori C, Ranaldi V, Silvestrini M, Luzzi S
Clin Neurol Neurosurg 2019 Dec;187:105555. Epub 2019 Oct 11 doi: 10.1016/j.clineuro.2019.105555. PMID: 31639632
Pop-Busui R
J Cardiovasc Transl Res 2012 Aug;5(4):463-78. Epub 2012 May 30 doi: 10.1007/s12265-012-9367-6. PMID: 22644723Free PMC Article
Zafeiriou DI
Pediatr Neurol 2004 Jul;31(1):1-8. doi: 10.1016/j.pediatrneurol.2004.01.012. PMID: 15246484
Colachis SC 3rd
J Am Paraplegia Soc 1992 Jul;15(3):171-86. doi: 10.1080/01952307.1992.11735871. PMID: 1500943

Recent systematic reviews

Jung Y, Breitbart S, Malvea A, Bhatia A, Ibrahim GM, Gorodetsky C
World Neurosurg 2024 Mar;183:227-238.e5. Epub 2024 Jan 3 doi: 10.1016/j.wneu.2023.12.158. PMID: 38181878
Uncini A, Notturno F, Kuwabara S
J Neurol Neurosurg Psychiatry 2020 Mar;91(3):278-284. Epub 2020 Jan 14 doi: 10.1136/jnnp-2019-321890. PMID: 31937584
Savage R, Billing D, Furnell A, Netto K, Aisbett B
Int Arch Occup Environ Health 2016 Feb;89(2):181-97. Epub 2015 May 27 doi: 10.1007/s00420-015-1062-x. PMID: 26012875
Deffieux X, Hubeaux K, Faivre E, Raibaut P, Ismael SS, Fernandez H, Amarenco G
Ann Phys Rehabil Med 2009 Apr;52(3):256-68. doi: 10.1016/j.rehab.2008.12.013. PMID: 19522039
England JD, Gronseth GS, Franklin G, Miller RG, Asbury AK, Carter GT, Cohen JA, Fisher MA, Howard JF, Kinsella LJ, Latov N, Lewis RA, Low PA, Sumner AJ; American Academy of Neurology; American Association of Electrodiagnostic Medicine; American Academy of Physical Medicine and Rehabilitation
Neurology 2005 Jan 25;64(2):199-207. doi: 10.1212/01.WNL.0000149522.32823.EA. PMID: 15668414

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