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Abnormal circulating creatine kinase concentration

MedGen UID:
868058
Concept ID:
C4022449
Finding
Synonym: Abnormal levels of creatine kinase in blood
 
HPO: HP:0040081

Definition

Any deviation from the normal circulating creatine kinase concentration. [from HPO]

Conditions with this feature

Mitochondrial complex III deficiency nuclear type 8
MedGen UID:
862877
Concept ID:
C4014440
Disease or Syndrome
Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).
MYPN-related myopathy
MedGen UID:
1384302
Concept ID:
C4479186
Disease or Syndrome
Congenital myopathy-24 (CMYP24) is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017). For a discussion of genetic heterogeneity of congenital myopathy, see 117000. For a discussion of genetic heterogeneity of nemaline myopathy, see 256030.
Congenital myopathy with internal nuclei and atypical cores
MedGen UID:
1642424
Concept ID:
C4707232
Disease or Syndrome
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.\n\nPeople with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.\n\nSome people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.\n\nA key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.
Congenital myopathy with reduced type 2 muscle fibers
MedGen UID:
1672638
Concept ID:
C5193081
Disease or Syndrome
Congenital myopathy-14 (CMYP14) is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected (summary by Ravenscroft et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Arthrogryposis multiplex congenita 3, myogenic type
MedGen UID:
1680655
Concept ID:
C5193121
Disease or Syndrome
Myogenic-type arthrogryposis multiplex congenita-3 (AMC3) is an autosomal recessive disorder characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking (summary by Baumann et al., 2017).

Recent clinical studies

Etiology

Sughimoto K, Kohira S, Hayashi H, Torii S, Kitamura T, Horai T, Miyaji K
J Thorac Cardiovasc Surg 2018 Dec;156(6):2251-2257. Epub 2018 Sep 28 doi: 10.1016/j.jtcvs.2018.08.097. PMID: 30449581
Ferreira CA, Vicente WV, Evora PR, Rodrigues AJ, Klamt JG, Carlotti AP, Carmona F, Manso PH
Rev Bras Cir Cardiovasc 2009 Oct-Dec;24(4):519-32. doi: 10.1590/s0102-76382009000500014. PMID: 20305926
Bertinchant JP, Polge A, Mohty D, Nguyen-Ngoc-Lam R, Estorc J, Cohendy R, Joubert P, Poupard P, Fabbro-Peray P, Monpeyroux F, Poirey S, Ledermann B, Raczka F, Brunet J, Nigond J, de la Coussaye JE
J Trauma 2000 May;48(5):924-31. doi: 10.1097/00005373-200005000-00018. PMID: 10823538
Ferjani M, Droc G, Dreux S, Arthaud M, Goarin JP, Riou B, Coriat P
Chest 1997 Feb;111(2):427-33. doi: 10.1378/chest.111.2.427. PMID: 9041992
Thomson WH, Sweetin JC, Hilditch TE
Clin Chim Acta 1975 Sep 16;63(3):383-94. doi: 10.1016/0009-8981(75)90061-3. PMID: 240524

Diagnosis

Bertinchant JP, Polge A, Mohty D, Nguyen-Ngoc-Lam R, Estorc J, Cohendy R, Joubert P, Poupard P, Fabbro-Peray P, Monpeyroux F, Poirey S, Ledermann B, Raczka F, Brunet J, Nigond J, de la Coussaye JE
J Trauma 2000 May;48(5):924-31. doi: 10.1097/00005373-200005000-00018. PMID: 10823538
Fernández-Real JM, Molina A, Broch M, Ricart W, Gutiérrez C, Casamitjana R, Vendrell J, Soler J, Gómez-Sáez JM
Diabetes 1999 May;48(5):1108-12. doi: 10.2337/diabetes.48.5.1108. PMID: 10331417
Ferjani M, Droc G, Dreux S, Arthaud M, Goarin JP, Riou B, Coriat P
Chest 1997 Feb;111(2):427-33. doi: 10.1378/chest.111.2.427. PMID: 9041992
Nava S, Bocconi L, Zuliani G, Kustermann A, Nicolini U
Obstet Gynecol 1996 Jun;87(6):975-80. doi: 10.1016/0029-7844(96)00056-7. PMID: 8649709
Moser H
Hum Genet 1984;66(1):17-40. doi: 10.1007/BF00275183. PMID: 6365739

Therapy

Sughimoto K, Kohira S, Hayashi H, Torii S, Kitamura T, Horai T, Miyaji K
J Thorac Cardiovasc Surg 2018 Dec;156(6):2251-2257. Epub 2018 Sep 28 doi: 10.1016/j.jtcvs.2018.08.097. PMID: 30449581
Ferreira CA, Vicente WV, Evora PR, Rodrigues AJ, Klamt JG, Carlotti AP, Carmona F, Manso PH
Rev Bras Cir Cardiovasc 2009 Oct-Dec;24(4):519-32. doi: 10.1590/s0102-76382009000500014. PMID: 20305926
Nakamura T, Kubo N, Seki Y, Ikeda N, Ishida T, Funayama H, Hashimoto S, Yasu T, Fujii M, Kawakami M, Saito M
Circ J 2004 Aug;68(8):763-8. doi: 10.1253/circj.68.763. PMID: 15277736
Costa MA, Carere RG, Lichtenstein SV, Foley DP, de Valk V, Lindenboom W, Roose PC, van Geldorp TR, Macaya C, Castanon JL, Fernandez-Avilèz F, Gonzáles JH, Heyer G, Unger F, Serruys PW
Circulation 2001 Nov 27;104(22):2689-93. doi: 10.1161/hc4701.099789. PMID: 11723020
Przybelski RJ, Daily EK, Kisicki JC, Mattia-Goldberg C, Bounds MJ, Colburn WA
Crit Care Med 1996 Dec;24(12):1993-2000. doi: 10.1097/00003246-199612000-00011. PMID: 8968267

Prognosis

Sughimoto K, Kohira S, Hayashi H, Torii S, Kitamura T, Horai T, Miyaji K
J Thorac Cardiovasc Surg 2018 Dec;156(6):2251-2257. Epub 2018 Sep 28 doi: 10.1016/j.jtcvs.2018.08.097. PMID: 30449581
Bertinchant JP, Polge A, Mohty D, Nguyen-Ngoc-Lam R, Estorc J, Cohendy R, Joubert P, Poupard P, Fabbro-Peray P, Monpeyroux F, Poirey S, Ledermann B, Raczka F, Brunet J, Nigond J, de la Coussaye JE
J Trauma 2000 May;48(5):924-31. doi: 10.1097/00005373-200005000-00018. PMID: 10823538
Fernández-Real JM, Molina A, Broch M, Ricart W, Gutiérrez C, Casamitjana R, Vendrell J, Soler J, Gómez-Sáez JM
Diabetes 1999 May;48(5):1108-12. doi: 10.2337/diabetes.48.5.1108. PMID: 10331417
Yang Z, Zhang W, Liu Y
Chin Med J (Engl) 1995 Aug;108(8):626-30. PMID: 7587497
Silverman LM, Dermer GB, Zweig MH, Van Steirteghem AC, Tökés ZA
Clin Chem 1979 Aug;25(8):1432-5. PMID: 455680

Clinical prediction guides

Sughimoto K, Kohira S, Hayashi H, Torii S, Kitamura T, Horai T, Miyaji K
J Thorac Cardiovasc Surg 2018 Dec;156(6):2251-2257. Epub 2018 Sep 28 doi: 10.1016/j.jtcvs.2018.08.097. PMID: 30449581
Bertinchant JP, Polge A, Mohty D, Nguyen-Ngoc-Lam R, Estorc J, Cohendy R, Joubert P, Poupard P, Fabbro-Peray P, Monpeyroux F, Poirey S, Ledermann B, Raczka F, Brunet J, Nigond J, de la Coussaye JE
J Trauma 2000 May;48(5):924-31. doi: 10.1097/00005373-200005000-00018. PMID: 10823538
Fernández-Real JM, Molina A, Broch M, Ricart W, Gutiérrez C, Casamitjana R, Vendrell J, Soler J, Gómez-Sáez JM
Diabetes 1999 May;48(5):1108-12. doi: 10.2337/diabetes.48.5.1108. PMID: 10331417
Przybelski RJ, Daily EK, Kisicki JC, Mattia-Goldberg C, Bounds MJ, Colburn WA
Crit Care Med 1996 Dec;24(12):1993-2000. doi: 10.1097/00003246-199612000-00011. PMID: 8968267
Moser H
Hum Genet 1984;66(1):17-40. doi: 10.1007/BF00275183. PMID: 6365739

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