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Enhancement of the C-reflex

MedGen UID:
765738
Concept ID:
C3552824
Finding
HPO: HP:0001340

Definition

Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. [from HPO]

Conditions with this feature

Epilepsy, familial adult myoclonic, 1
MedGen UID:
371424
Concept ID:
C1832841
Disease or Syndrome
Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME5 (615400), caused by mutation in the CNTN2 gene (190197) on chromosome 1q32; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4. Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).
Epilepsy, familial adult myoclonic, 2
MedGen UID:
375031
Concept ID:
C1842852
Disease or Syndrome
Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, familial adult myoclonic, 3
MedGen UID:
462210
Concept ID:
C3150860
Disease or Syndrome
Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, familial adult myoclonic, 4
MedGen UID:
767474
Concept ID:
C3554560
Disease or Syndrome

Recent clinical studies

Etiology

Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Shibasaki H, Yamashita Y, Tobimatsu S, Neshige R
Adv Neurol 1986;43:357-72. PMID: 3080853

Diagnosis

Latorre A, Belvisi D, Rothwell JC, Bhatia KP, Rocchi L
Clin Neurophysiol 2023 Dec;156:125-139. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.007. PMID: 37948946
Zutt R, Elting JW, Tijssen MAJ
Handb Clin Neurol 2019;161:149-165. doi: 10.1016/B978-0-444-64142-7.00046-1. PMID: 31307597
Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P
Rev Neurol (Paris) 2009 Oct;165(10):812-20. Epub 2009 Jul 18 doi: 10.1016/j.neurol.2009.05.014. PMID: 19616813
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412

Therapy

Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Terada K, Ikeda A, Mima T, Kimura M, Nagahama Y, Kamioka Y, Murone I, Kimura J, Shibasaki H
Mov Disord 1997 May;12(3):370-7. doi: 10.1002/mds.870120316. PMID: 9159732
Yoshida K, Moriwaka F, Matsuura T, Hamada T, Tashiro K
Jpn J Psychiatry Neurol 1993 Sep;47(3):621-5. doi: 10.1111/j.1440-1819.1993.tb01808.x. PMID: 8301877

Prognosis

Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P
Rev Neurol (Paris) 2009 Oct;165(10):812-20. Epub 2009 Jul 18 doi: 10.1016/j.neurol.2009.05.014. PMID: 19616813
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412

Clinical prediction guides

Latorre A, Belvisi D, Rothwell JC, Bhatia KP, Rocchi L
Clin Neurophysiol 2023 Dec;156:125-139. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.007. PMID: 37948946
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412
Guerrini R, Bonanni P, Patrignani A, Brown P, Parmeggiani L, Grosse P, Brovedani P, Moro F, Aridon P, Carrozzo R, Casari G
Brain 2001 Dec;124(Pt 12):2459-75. doi: 10.1093/brain/124.12.2459. PMID: 11701600
Shibasaki H, Yamashita Y, Neshige R, Tobimatsu S, Fukui R
Brain 1985 Mar;108 ( Pt 1):225-40. doi: 10.1093/brain/108.1.225. PMID: 3919884

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