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Hereditary continuous muscle fiber activity

MedGen UID:
331775
•Concept ID:
C1834559
•
Disease or Syndrome
Synonym: Continuous Muscle Fiber Activity, Hereditary
SNOMED CT: Hereditary continuous muscle fiber activity (1231178006)
 
Monarch Initiative: MONDO:0019943
OMIM®: 160120
Orphanet: ORPHA972

Definition

A rare non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. [from SNOMEDCT_US]

Professional guidelines

PubMed

Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations.
Wood ME, Garber JE, Isaacs C, Masood S, Bedrosian I, Tung N, Chun J, Schnabel FR, Arun BK; International Society of Cancer Risk Assessment and Management
Breast J 2019 Jul;25(4):575-577. doi: 10.1111/tbj.13292. PMID: 31280501
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG
J Clin Oncol 2018 Feb 1;36(4):414-424. Epub 2017 Dec 13 doi: 10.1200/JCO.2017.74.1173. PMID: 29236593Free PMC Article
How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
Lynce F, Isaacs C
Am Soc Clin Oncol Educ Book 2016;35:e72-8. doi: 10.1200/EDBK_160391. PMID: 27249773Free PMC Article

Recent clinical studies

Etiology

Prostate Cancer Predisposition.
Bhanji Y, Isaacs WB, Xu J, Cooney KA
Urol Clin North Am 2021 Aug;48(3):283-296. Epub 2021 Jun 12 doi: 10.1016/j.ucl.2021.03.001. PMID: 34210485
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG
J Clin Oncol 2018 Feb 1;36(4):414-424. Epub 2017 Dec 13 doi: 10.1200/JCO.2017.74.1173. PMID: 29236593Free PMC Article
How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
Lynce F, Isaacs C
Am Soc Clin Oncol Educ Book 2016;35:e72-8. doi: 10.1200/EDBK_160391. PMID: 27249773Free PMC Article
Myokymia and neuromyotonia in veterinary medicine: a comparison with peripheral nerve hyperexcitability syndrome in humans.
Vanhaesebrouck AE, Bhatti SF, Franklin RJ, Van Ham L
Vet J 2013 Aug;197(2):153-62. Epub 2013 Apr 11 doi: 10.1016/j.tvjl.2013.03.002. PMID: 23583699
Genetic basis of cancer of the kidney: disease-specific approaches to therapy.
Linehan WM, Vasselli J, Srinivasan R, Walther MM, Merino M, Choyke P, Vocke C, Schmidt L, Isaacs JS, Glenn G, Toro J, Zbar B, Bottaro D, Neckers L
Clin Cancer Res 2004 Sep 15;10(18 Pt 2):6282S-9S. doi: 10.1158/1078-0432.CCR-050013. PMID: 15448018

Diagnosis

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
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG
J Clin Oncol 2018 Feb 1;36(4):414-424. Epub 2017 Dec 13 doi: 10.1200/JCO.2017.74.1173. PMID: 29236593Free PMC Article
Axonal neuropathy with neuromyotonia: there is a HINT.
Peeters K, Chamova T, Tournev I, Jordanova A
Brain 2017 Apr 1;140(4):868-877. doi: 10.1093/brain/aww301. PMID: 28007994Free PMC Article
Recurrent fevers.
Isaacs D, Kesson A, Lester-Smith D, Chaitow J
J Paediatr Child Health 2013 Mar;49(3):E243-5. Epub 2012 Dec 18 doi: 10.1111/jpc.12042. PMID: 23252425
Continuous muscle activity, Morvan's syndrome and limbic encephalitis: ionic or non ionic disorders?
Serratrice G, Serratrice J
Acta Myol 2011 Jun;30(1):32-3. PMID: 21842591Free PMC Article

Therapy

Streamlined Genetic Education and Cascade Testing in Men from Hereditary Breast Ovarian Cancer Families: A Randomized Trial.
Grisham C, Peshkin BN, Sorgen L, Isaacs C, Ladd MK, Jacobs A, Binion S, Tynan M, Kuchinsky E, Friedman S, Taylor KL, Graves K, O'Neill S, Kim D, Schwartz MD
Public Health Genomics 2024;27(1):100-109. Epub 2024 Aug 22 doi: 10.1159/000540466. PMID: 39173603Free PMC Article
Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population.
O'Neill SC, Evans C, Hamilton RJ, Peshkin BN, Isaacs C, Friedman S, Tercyak KP
Fam Cancer 2018 Jul;17(3):351-360. doi: 10.1007/s10689-017-0059-x. PMID: 29124494Free PMC Article
Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling.
Butrick M, Kelly S, Peshkin BN, Luta G, Nusbaum R, Hooker GW, Graves K, Feeley L, Isaacs C, Valdimarsdottir HB, Jandorf L, DeMarco T, Wood M, McKinnon W, Garber J, McCormick SR, Schwartz MD
Genet Med 2015 Jun;17(6):467-75. Epub 2014 Sep 18 doi: 10.1038/gim.2014.125. PMID: 25232856Free PMC Article
Diabetes and breast cancer among women with BRCA1 and BRCA2 mutations.
Bordeleau L, Lipscombe L, Lubinski J, Ghadirian P, Foulkes WD, Neuhausen S, Ainsworth P, Pollak M, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group
Cancer 2011 May 1;117(9):1812-8. Epub 2010 Nov 10 doi: 10.1002/cncr.25595. PMID: 21509758Free PMC Article
Neuromyotonia in mice with hereditary myelinopathies.
Zielasek J, Martini R, Suter U, Toyka KV
Muscle Nerve 2000 May;23(5):696-701. doi: 10.1002/(sici)1097-4598(200005)23:5<696::aid-mus5>3.0.co;2-w. PMID: 10797391

Prognosis

Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.
Fang J, Huang H, Lei Q, Luo Y, Tang Z, Shi X, Tang JG
BMC Neurol 2022 May 3;22(1):168. doi: 10.1186/s12883-022-02690-6. PMID: 35501818Free PMC Article
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM; Frontotemporal dementia Research in Jutland Association (FReJA) consortium, Nielsen JE
Acta Neurol Scand 2022 May;145(5):529-540. Epub 2022 Jan 8 doi: 10.1111/ane.13578. PMID: 34997757
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG
J Clin Oncol 2018 Feb 1;36(4):414-424. Epub 2017 Dec 13 doi: 10.1200/JCO.2017.74.1173. PMID: 29236593Free PMC Article
How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
Lynce F, Isaacs C
Am Soc Clin Oncol Educ Book 2016;35:e72-8. doi: 10.1200/EDBK_160391. PMID: 27249773Free PMC Article
Deleterious BRCA1/2 mutations in an urban population of Black women.
Lynce F, Smith KL, Stein J, DeMarco T, Wang Y, Wang H, Fries M, Peshkin BN, Isaacs C
Breast Cancer Res Treat 2015 Aug;153(1):201-9. Epub 2015 Aug 7 doi: 10.1007/s10549-015-3527-8. PMID: 26250392Free PMC Article

Clinical prediction guides

Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM; Frontotemporal dementia Research in Jutland Association (FReJA) consortium, Nielsen JE
Acta Neurol Scand 2022 May;145(5):529-540. Epub 2022 Jan 8 doi: 10.1111/ane.13578. PMID: 34997757
Prostate Cancer Predisposition.
Bhanji Y, Isaacs WB, Xu J, Cooney KA
Urol Clin North Am 2021 Aug;48(3):283-296. Epub 2021 Jun 12 doi: 10.1016/j.ucl.2021.03.001. PMID: 34210485
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG
J Clin Oncol 2018 Feb 1;36(4):414-424. Epub 2017 Dec 13 doi: 10.1200/JCO.2017.74.1173. PMID: 29236593Free PMC Article
Deleterious BRCA1/2 mutations in an urban population of Black women.
Lynce F, Smith KL, Stein J, DeMarco T, Wang Y, Wang H, Fries M, Peshkin BN, Isaacs C
Breast Cancer Res Treat 2015 Aug;153(1):201-9. Epub 2015 Aug 7 doi: 10.1007/s10549-015-3527-8. PMID: 26250392Free PMC Article
Neuromyotonia in mice with hereditary myelinopathies.
Zielasek J, Martini R, Suter U, Toyka KV
Muscle Nerve 2000 May;23(5):696-701. doi: 10.1002/(sici)1097-4598(200005)23:5<696::aid-mus5>3.0.co;2-w. PMID: 10797391

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