U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cramp-fasciculation syndrome

MedGen UID:
148299
•Concept ID:
C0751381
•
Disease or Syndrome
Synonyms: Benign Fasciculation-Cramp Syndrome; Benign Fasciculation-Cramp Syndromes; Cramp Fasciculation Syndrome; Cramp-Fasciculation Syndrome; Cramp-Fasciculation Syndromes; Fasciculation Cramp Syndrome, Benign; Fasciculation-Cramp Syndrome, Benign; Fasciculation-Cramp Syndromes, Benign; Foley Denny Brown Syndrome; Foley-Denny-Brown Syndrome; Syndrome, Cramp-Fasciculation; Syndrome, Foley-Denny-Brown; Syndromes, Cramp-Fasciculation
SNOMED CT: Benign fasciculation cramp syndrome (230652001); Benign fasciculation-cramp syndrome (230652001); Syndrome of Foley and Denny-Brown (230652001)
 
Monarch Initiative: MONDO:0035586
Orphanet: ORPHA581271

Definition

A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCramp-fasciculation syndrome

Professional guidelines

PubMed

Botulinum toxin treatment of muscle cramps: a clinical and neurophysiological study.
Bertolasi L, Priori A, Tomelleri G, Bongiovanni LG, Fincati E, Simonati A, De Grandis D, Rizzuto N
Ann Neurol 1997 Feb;41(2):181-6. doi: 10.1002/ana.410410209. PMID: 9029067

Recent clinical studies

Etiology

Autoimmune neuromyotonia.
Comperat L, Pegat A, Honnorat J, Joubert B
Curr Opin Neurol 2022 Oct 1;35(5):597-603. Epub 2022 Aug 19 doi: 10.1097/WCO.0000000000001104. PMID: 35989569
A prospective study of benign fasciculation syndrome and anxiety.
Filippakis A, Jara J, Ventura N, Scala S, Scopa C, Ruthazer R, Karakis I, Srinivasan J, Russell JA, Ho DT
Muscle Nerve 2018 Dec;58(6):852-854. Epub 2018 Sep 11 doi: 10.1002/mus.26193. PMID: 30028521
Cramp-fasciculation syndrome in patients with and without neural autoantibodies.
Liewluck T, Klein CJ, Jones LK Jr
Muscle Nerve 2014 Mar;49(3):351-6. Epub 2013 Dec 17 doi: 10.1002/mus.23935. PMID: 23836298
Fasciculation anxiety syndrome in clinicians.
Simon NG, Kiernan MC
J Neurol 2013 Jul;260(7):1743-7. Epub 2013 Feb 12 doi: 10.1007/s00415-013-6856-8. PMID: 23400500
Autoimmune disorders of neuronal potassium channels.
Newsom-Davis J, Buckley C, Clover L, Hart I, Maddison P, Tüzüm E, Vincent A
Ann N Y Acad Sci 2003 Sep;998:202-10. doi: 10.1196/annals.1254.022. PMID: 14592877

Diagnosis

Autoimmune neuromyotonia.
Comperat L, Pegat A, Honnorat J, Joubert B
Curr Opin Neurol 2022 Oct 1;35(5):597-603. Epub 2022 Aug 19 doi: 10.1097/WCO.0000000000001104. PMID: 35989569
Neuromuscular hyperexcitability syndromes.
De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
A prospective study of benign fasciculation syndrome and anxiety.
Filippakis A, Jara J, Ventura N, Scala S, Scopa C, Ruthazer R, Karakis I, Srinivasan J, Russell JA, Ho DT
Muscle Nerve 2018 Dec;58(6):852-854. Epub 2018 Sep 11 doi: 10.1002/mus.26193. PMID: 30028521
Peripheral Nerve Hyperexcitability Syndromes.
Sawlani K, Katirji B
Continuum (Minneap Minn) 2017 Oct;23(5, Peripheral Nerve and Motor Neuron Disorders):1437-1450. doi: 10.1212/CON.0000000000000520. PMID: 28968370
Cramps and small-fiber neuropathy.
Lopate G, Streif E, Harms M, Weihl C, Pestronk A
Muscle Nerve 2013 Aug;48(2):252-5. Epub 2013 Jun 28 doi: 10.1002/mus.23757. PMID: 23813593

Therapy

A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.
Nirenberg MJ, Chaouni R, Biller TM, Gilbert RM, Paisán-Ruiz C
Clin Genet 2018 Jan;93(1):164-168. Epub 2017 Jul 10 doi: 10.1111/cge.13040. PMID: 28436534Free PMC Article
Bronchial involvement in the cramp-fasciculation syndrome.
de Entrambasaguas M, Ortega-Albás JJ, Martínez-Lozano MD, Díaz JR
Eur Neurol 2006;56(2):124-6. Epub 2006 Sep 8 doi: 10.1159/000095703. PMID: 16960453
Postirradiation localized cramp-fasciculation syndrome.
Maramattom BV, Abraham SJ
Neurology 2006 Jul 25;67(2):E2. doi: 10.1212/01.wnl.0000218167.67121.e9. PMID: 16864803
Neuromyotonia.
Newsom-Davis J
Rev Neurol (Paris) 2004 May;160(5 Pt 2):S85-9. doi: 10.1016/s0035-3787(04)71010-3. PMID: 15269665
Cramp-fasciculation syndrome: a treatable hyperexcitable peripheral nerve disorder.
Tahmoush AJ, Alonso RJ, Tahmoush GP, Heiman-Patterson TD
Neurology 1991 Jul;41(7):1021-4. doi: 10.1212/wnl.41.7.1021. PMID: 1648679

Prognosis

A prospective study of benign fasciculation syndrome and anxiety.
Filippakis A, Jara J, Ventura N, Scala S, Scopa C, Ruthazer R, Karakis I, Srinivasan J, Russell JA, Ho DT
Muscle Nerve 2018 Dec;58(6):852-854. Epub 2018 Sep 11 doi: 10.1002/mus.26193. PMID: 30028521
Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndrome.
Harrison TB, Benatar M
Muscle Nerve 2007 Jun;35(6):776-80. doi: 10.1002/mus.20774. PMID: 17405138
Botulinum toxin treatment of muscle cramps: a clinical and neurophysiological study.
Bertolasi L, Priori A, Tomelleri G, Bongiovanni LG, Fincati E, Simonati A, De Grandis D, Rizzuto N
Ann Neurol 1997 Feb;41(2):181-6. doi: 10.1002/ana.410410209. PMID: 9029067
Estimation of the frequency of the muscular pain-fasciculation syndrome and the muscular cramp-fasciculation syndrome in the adult population.
Jansen PH, van Dijck JA, Verbeek AL, Durian FW, Joosten EM
Eur Arch Psychiatry Clin Neurosci 1991;241(2):102-4. doi: 10.1007/BF02191150. PMID: 1834178
Cramp-fasciculation syndrome: a treatable hyperexcitable peripheral nerve disorder.
Tahmoush AJ, Alonso RJ, Tahmoush GP, Heiman-Patterson TD
Neurology 1991 Jul;41(7):1021-4. doi: 10.1212/wnl.41.7.1021. PMID: 1648679

Clinical prediction guides

A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.
Nirenberg MJ, Chaouni R, Biller TM, Gilbert RM, Paisán-Ruiz C
Clin Genet 2018 Jan;93(1):164-168. Epub 2017 Jul 10 doi: 10.1111/cge.13040. PMID: 28436534Free PMC Article
Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndrome.
Harrison TB, Benatar M
Muscle Nerve 2007 Jun;35(6):776-80. doi: 10.1002/mus.20774. PMID: 17405138
Botulinum toxin treatment of muscle cramps: a clinical and neurophysiological study.
Bertolasi L, Priori A, Tomelleri G, Bongiovanni LG, Fincati E, Simonati A, De Grandis D, Rizzuto N
Ann Neurol 1997 Feb;41(2):181-6. doi: 10.1002/ana.410410209. PMID: 9029067

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On
    • Cramp-fasciculation syndrome
      Cramp-fasciculation syndrome
      MedGen
    • Extracellular Matrix
      Extracellular Matrix
      A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provid...<br/>Year introduced: 1984
      MeSH
    • Stage IV Esophageal Cancer AJCC v6
      Stage IV Esophageal Cancer AJCC v6
      MedGen
    • Malignant neoplasm of cervical esophagus
      Malignant neoplasm of cervical esophagus
      MedGen
    • Paragonimus
      Paragonimus
      A genus of lung flukes of the family Troglotrematidae infecting humans and animals. This genus consists of several species one of which is PARAGONIMUS WESTERMANI, a common lun...<br/>
      MeSH

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...