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Muscle cramps, familial

MedGen UID:
371885
•Concept ID:
C1834708
•
Disease or Syndrome
Synonym: Muscle Cramps, Familial
 
Monarch Initiative: MONDO:0008022
OMIM®: 158400

Clinical features

From HPO
Muscle spasm
MedGen UID:
52431
•Concept ID:
C0037763
•
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
See: Feature record | Search on this feature
EMG: neuropathic changes
MedGen UID:
867363
•Concept ID:
C4021727
•
Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Rehabilitation treatment of multiple sclerosis.
Duan H, Jing Y, Li Y, Lian Y, Li J, Li Z
Front Immunol 2023;14:1168821. Epub 2023 Apr 6 doi: 10.3389/fimmu.2023.1168821. PMID: 37090712Free PMC Article
Nonoperative Management of Cervical Radiculopathy.
Childress MA, Becker BA
Am Fam Physician 2016 May 1;93(9):746-54. PMID: 27175952
Risk assessment for respiratory complications in paediatric anaesthesia: a prospective cohort study.
von Ungern-Sternberg BS, Boda K, Chambers NA, Rebmann C, Johnson C, Sly PD, Habre W
Lancet 2010 Sep 4;376(9743):773-83. doi: 10.1016/S0140-6736(10)61193-2. PMID: 20816545

Recent clinical studies

Etiology

Statin Intolerance: A Review and Update.
Tsushima Y, Hatipoglu B
Endocr Pract 2023 Jul;29(7):566-571. Epub 2023 Mar 22 doi: 10.1016/j.eprac.2023.03.004. PMID: 36958647
Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.
Glass HC, Soul JS, Chang T, Wusthoff CJ, Chu CJ, Massey SL, Abend NS, Lemmon M, Thomas C, Numis AL, Guillet R, Sturza J, McNamara NA, Rogers EE, Franck LS, McCulloch CE, Shellhaas RA
JAMA Neurol 2021 Jul 1;78(7):817-825. doi: 10.1001/jamaneurol.2021.1437. PMID: 34028496Free PMC Article
Magnesium for skeletal muscle cramps.
Garrison SR, Korownyk CS, Kolber MR, Allan GM, Musini VM, Sekhon RK, Dugré N
Cochrane Database Syst Rev 2020 Sep 21;9(9):CD009402. doi: 10.1002/14651858.CD009402.pub3. PMID: 32956536Free PMC Article
Nonoperative Management of Cervical Radiculopathy.
Childress MA, Becker BA
Am Fam Physician 2016 May 1;93(9):746-54. PMID: 27175952
Risk assessment for respiratory complications in paediatric anaesthesia: a prospective cohort study.
von Ungern-Sternberg BS, Boda K, Chambers NA, Rebmann C, Johnson C, Sly PD, Habre W
Lancet 2010 Sep 4;376(9743):773-83. doi: 10.1016/S0140-6736(10)61193-2. PMID: 20816545

Diagnosis

Statin Intolerance: A Review and Update.
Tsushima Y, Hatipoglu B
Endocr Pract 2023 Jul;29(7):566-571. Epub 2023 Mar 22 doi: 10.1016/j.eprac.2023.03.004. PMID: 36958647
Benign spasms of infancy: a mimicker of infantile epileptic disorders.
Ghossein J, Pohl D
Epileptic Disord 2019 Dec 1;21(6):585-589. doi: 10.1684/epd.2019.1116. PMID: 31843733
Episodic Muscle Disorders.
Sansone VA
Continuum (Minneap Minn) 2019 Dec;25(6):1696-1711. doi: 10.1212/CON.0000000000000802. PMID: 31794467
Nonoperative Management of Cervical Radiculopathy.
Childress MA, Becker BA
Am Fam Physician 2016 May 1;93(9):746-54. PMID: 27175952
Nocturnal leg cramps.
Allen RE, Kirby KA
Am Fam Physician 2012 Aug 15;86(4):350-5. PMID: 22963024

Therapy

Statin Intolerance: A Review and Update.
Tsushima Y, Hatipoglu B
Endocr Pract 2023 Jul;29(7):566-571. Epub 2023 Mar 22 doi: 10.1016/j.eprac.2023.03.004. PMID: 36958647
Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.
Glass HC, Soul JS, Chang T, Wusthoff CJ, Chu CJ, Massey SL, Abend NS, Lemmon M, Thomas C, Numis AL, Guillet R, Sturza J, McNamara NA, Rogers EE, Franck LS, McCulloch CE, Shellhaas RA
JAMA Neurol 2021 Jul 1;78(7):817-825. doi: 10.1001/jamaneurol.2021.1437. PMID: 34028496Free PMC Article
Magnesium for skeletal muscle cramps.
Garrison SR, Korownyk CS, Kolber MR, Allan GM, Musini VM, Sekhon RK, Dugré N
Cochrane Database Syst Rev 2020 Sep 21;9(9):CD009402. doi: 10.1002/14651858.CD009402.pub3. PMID: 32956536Free PMC Article
Nonoperative Management of Cervical Radiculopathy.
Childress MA, Becker BA
Am Fam Physician 2016 May 1;93(9):746-54. PMID: 27175952
Risk assessment for respiratory complications in paediatric anaesthesia: a prospective cohort study.
von Ungern-Sternberg BS, Boda K, Chambers NA, Rebmann C, Johnson C, Sly PD, Habre W
Lancet 2010 Sep 4;376(9743):773-83. doi: 10.1016/S0140-6736(10)61193-2. PMID: 20816545

Prognosis

Unilateral periocular spasm.
Walker C
JAAPA 2024 Feb 1;37(2):1-4. doi: 10.1097/01.JAA.0000995640.85221.b0. PMID: 38270661
Spinocerebellar ataxia type 23 (SCA23): a review.
Wu F, Wang X, Li X, Teng H, Tian T, Bai J
J Neurol 2021 Dec;268(12):4630-4645. Epub 2020 Nov 11 doi: 10.1007/s00415-020-10297-5. PMID: 33175256
Variant Angina and Aborted Sudden Cardiac Death.
Kundu A, Vaze A, Sardar P, Nagy A, Aronow WS, Botkin NF
Curr Cardiol Rep 2018 Mar 8;20(4):26. doi: 10.1007/s11886-018-0963-1. PMID: 29520510
Examination and clinical care of the patient with neuropathy.
Said G
Handb Clin Neurol 2013;115:235-44. doi: 10.1016/B978-0-444-52902-2.00013-8. PMID: 23931783
Spine injuries in dancers.
Gottschlich LM, Young CC
Curr Sports Med Rep 2011 Jan-Feb;10(1):40-4. doi: 10.1249/JSR.0b013e318205e08b. PMID: 21228650

Clinical prediction guides

Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.
Glass HC, Soul JS, Chang T, Wusthoff CJ, Chu CJ, Massey SL, Abend NS, Lemmon M, Thomas C, Numis AL, Guillet R, Sturza J, McNamara NA, Rogers EE, Franck LS, McCulloch CE, Shellhaas RA
JAMA Neurol 2021 Jul 1;78(7):817-825. doi: 10.1001/jamaneurol.2021.1437. PMID: 34028496Free PMC Article
Symptom prevalence and quality of life of patients with end-stage liver disease: A systematic review and meta-analysis.
Peng JK, Hepgul N, Higginson IJ, Gao W
Palliat Med 2019 Jan;33(1):24-36. Epub 2018 Oct 22 doi: 10.1177/0269216318807051. PMID: 30345878Free PMC Article
Variant Angina and Aborted Sudden Cardiac Death.
Kundu A, Vaze A, Sardar P, Nagy A, Aronow WS, Botkin NF
Curr Cardiol Rep 2018 Mar 8;20(4):26. doi: 10.1007/s11886-018-0963-1. PMID: 29520510
How benign is hematuria? Using genetics to predict prognosis.
Gale DP
Pediatr Nephrol 2013 Aug;28(8):1183-93. Epub 2013 Jan 17 doi: 10.1007/s00467-012-2399-y. PMID: 23325022
Exercise-induced asthma.
Tan RA, Spector SL
Sports Med 1998 Jan;25(1):1-6. doi: 10.2165/00007256-199825010-00001. PMID: 9458523

Recent systematic reviews

Movement disorders associated with neuronal antibodies: a data-driven approach.
Sturchio A, Dwivedi AK, Gastaldi M, Grimberg MB, Businaro P, Duque KR, Vizcarra JA, Abdelghany E, Balint B, Marsili L, Espay AJ
J Neurol 2022 Jul;269(7):3511-3521. Epub 2022 Jan 13 doi: 10.1007/s00415-021-10934-7. PMID: 35024921Free PMC Article
Vigabatrin-related adverse events for the treatment of epileptic spasms: systematic review and meta-analysis.
Biswas A, Yossofzai O, Vincent A, Go C, Widjaja E
Expert Rev Neurother 2020 Dec;20(12):1315-1324. Epub 2020 Nov 30 doi: 10.1080/14737175.2020.1840356. PMID: 33078964
Magnesium for skeletal muscle cramps.
Garrison SR, Korownyk CS, Kolber MR, Allan GM, Musini VM, Sekhon RK, Dugré N
Cochrane Database Syst Rev 2020 Sep 21;9(9):CD009402. doi: 10.1002/14651858.CD009402.pub3. PMID: 32956536Free PMC Article
Symptom prevalence and quality of life of patients with end-stage liver disease: A systematic review and meta-analysis.
Peng JK, Hepgul N, Higginson IJ, Gao W
Palliat Med 2019 Jan;33(1):24-36. Epub 2018 Oct 22 doi: 10.1177/0269216318807051. PMID: 30345878Free PMC Article
Dysphagia, Speech, Voice, and Trismus following Radiotherapy and/or Chemotherapy in Patients with Head and Neck Carcinoma: Review of the Literature.
Heijnen BJ, Speyer R, Kertscher B, Cordier R, Koetsenruijter KW, Swan K, Bogaardt H
Biomed Res Int 2016;2016:6086894. Epub 2016 Sep 19 doi: 10.1155/2016/6086894. PMID: 27722170Free PMC Article

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