U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Caveolinopathy

MedGen UID:
1826055
Concept ID:
C5679790
Disease or Syndrome
Synonym: Caveolinopathies
 
Related genes: MYLK2, MYH7, MYH6, CAV3
 
Monarch Initiative: MONDO:0016146
Orphanet: ORPHA207078

Definition

Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Roos A, Hathazi D, Schara U
Methods Mol Biol 2020;2169:197-216. doi: 10.1007/978-1-0716-0732-9_18. PMID: 32548831
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J
Brain Pathol 2020 Sep;30(5):877-896. Epub 2020 Jun 15 doi: 10.1111/bpa.12864. PMID: 32419263Free PMC Article

Recent clinical studies

Etiology

Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430
Finsterer J, Scorza FA, Scorza CA
J Clin Neuromuscul Dis 2019 Dec;21(2):90-102. doi: 10.1097/CND.0000000000000269. PMID: 31743252
Wakayama Y
J Biomed Biotechnol 2010;2010:731569. Epub 2010 Mar 21 doi: 10.1155/2010/731569. PMID: 20339523Free PMC Article
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
Neuromuscul Disord 2008 Jul;18(7):572-8. Epub 2008 Jun 25 doi: 10.1016/j.nmd.2008.05.003. PMID: 18583131
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP
Hum Mutat 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. PMID: 17994539

Diagnosis

Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J
Brain Pathol 2020 Sep;30(5):877-896. Epub 2020 Jun 15 doi: 10.1111/bpa.12864. PMID: 32419263Free PMC Article
Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K
Neuromuscul Disord 2018 Oct;28(10):857-862. Epub 2018 Jul 31 doi: 10.1016/j.nmd.2018.07.010. PMID: 30174172
Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P
Neurologist 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036. PMID: 26185955
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
Neuromuscul Disord 2008 Jul;18(7):572-8. Epub 2008 Jun 25 doi: 10.1016/j.nmd.2008.05.003. PMID: 18583131
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C
Hum Mutat 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. PMID: 15580566

Therapy

Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B
Acta Neurol Scand 2015 Sep;132(3):185-90. Epub 2015 Jan 28 doi: 10.1111/ane.12369. PMID: 25630502

Prognosis

Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430
Fanin M, Tasca E, Nascimbeni AC, Angelini C
J Neuropathol Exp Neurol 2009 Apr;68(4):383-90. doi: 10.1097/NEN.0b013e31819cd612. PMID: 19287313
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP
Hum Mutat 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. PMID: 17994539

Clinical prediction guides

Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K
Neuromuscul Disord 2018 Oct;28(10):857-862. Epub 2018 Jul 31 doi: 10.1016/j.nmd.2018.07.010. PMID: 30174172
Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G
Neuromuscul Disord 2012 Jun;22(6):534-40. Epub 2012 Jan 14 doi: 10.1016/j.nmd.2011.12.001. PMID: 22245016Free PMC Article
Brauers E, Dreier A, Roos A, Wormland B, Weis J, Krüttgen A
Am J Pathol 2010 Jul;177(1):261-70. Epub 2010 May 14 doi: 10.2353/ajpath.2010.090741. PMID: 20472890Free PMC Article
Wakayama Y
J Biomed Biotechnol 2010;2010:731569. Epub 2010 Mar 21 doi: 10.1155/2010/731569. PMID: 20339523Free PMC Article
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W
J Child Neurol 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. PMID: 12269726

Recent systematic reviews

Finsterer J, Scorza FA, Scorza CA
J Clin Neuromuscul Dis 2019 Dec;21(2):90-102. doi: 10.1097/CND.0000000000000269. PMID: 31743252

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...