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Proximal myotonic myopathy(DM2; PROMM)

MedGen UID:
419137
Concept ID:
C2931689
Disease or Syndrome
Synonyms: Dystrophia Myotonica 2; Dystrophia Myotonica 2s; Myopathies, Proximal Myotonic; Myopathy, Proximal Myotonic; Myotonic Dystrophy 2; Myotonic Myopathies, Proximal; Myotonic Myopathy, Proximal; PROMM (Proximal Myotonic Myopathy); PROMMs (Proximal Myotonic Myopathy); Proximal Myotonic Myopathies; Proximal Myotonic Myopathy; Ricker Syndrome; Syndrome, Ricker
SNOMED CT: Proximal myotonic myopathy (715317001); Myotonic dystrophy type 2 (715317001); Ricker disease (715317001); Ricker syndrome (715317001)
 
OMIM®: 116955; 602668

Definition

A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProximal myotonic myopathy

Recent clinical studies

Etiology

Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P
Muscle Nerve 2015 May;51(5):686-91. Epub 2015 Mar 31 doi: 10.1002/mus.24440. PMID: 25186227
Schenk S, Löscher S, Mickley F, Hartmann A
Z Kardiol 2005 Nov;94(11):754-60. doi: 10.1007/s00392-005-0281-7. PMID: 16258778
Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F, Siciliano G, Mancuso M, Vitelli E, Zhang S, Krahe R, Moxley RT
Neuromuscul Disord 2003 Dec;13(10):813-21. PMID: 14678804
Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG
Neurosci Lett 2003 Sep 11;348(2):73-6. PMID: 12902021
Schneider-Gold C, Beck M, Wessig C, George A, Kele H, Reiners K, Toyka KV
Neurology 2003 Feb 11;60(3):500-2. PMID: 12578937

Diagnosis

Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P
Muscle Nerve 2015 May;51(5):686-91. Epub 2015 Mar 31 doi: 10.1002/mus.24440. PMID: 25186227
Kruse B, Wöhrle D, Steinbach P, Gal A
Hum Mutat 2008 Aug;29(8):E100-2. doi: 10.1002/humu.20791. PMID: 18484632
Schenk S, Löscher S, Mickley F, Hartmann A
Z Kardiol 2005 Nov;94(11):754-60. doi: 10.1007/s00392-005-0281-7. PMID: 16258778
Jakubiczka S, Vielhaber S, Kress W, Küpferling P, Reuner U, Kunath B, Wieacker P
Neurogenetics 2004 Feb;5(1):55-9. Epub 2003 Dec 10 doi: 10.1007/s10048-003-0168-6. PMID: 14666402
Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG
Neurosci Lett 2003 Sep 11;348(2):73-6. PMID: 12902021

Therapy

Schneider-Gold C, Beck M, Wessig C, George A, Kele H, Reiners K, Toyka KV
Neurology 2003 Feb 11;60(3):500-2. PMID: 12578937
Chu K, Cho JW, Song EC, Jeon BS
Can J Neurol Sci 2002 May;29(2):188-90. PMID: 12035844
Schneider C, Pedrosa Gil F, Schneider M, Anetseder M, Kress W, Müller CR
Neuromuscul Disord 2002 Jan;12(1):31-5. PMID: 11731282
Kuntzer T, Flocard F, Vial C, Kohler A, Magistris M, Labarre-Vila A, Gonnaud PM, Ochsner F, Soichot P, Chan V, Monnier G
Muscle Nerve 2000 Jul;23(7):1089-94. PMID: 10883004
von zur Mühlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimers CD
Heart 1998 Jun;79(6):619-21. PMID: 10078095Free PMC Article

Prognosis

Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P
Muscle Nerve 2015 May;51(5):686-91. Epub 2015 Mar 31 doi: 10.1002/mus.24440. PMID: 25186227
Meola G, Sansone V, Marinou K, Cotelli M, Moxley RT 3rd, Thornton CA, De Ambroggi L
J Neurol Sci 2002 Jan 15;193(2):89-96. PMID: 11790388
Schneider C, Ziegler A, Ricker K, Grimm T, Kress W, Reimers CD, Meinck H, Reiners K, Toyka KV
Neurology 2000 Aug 8;55(3):383-8. PMID: 10932272
Meola G, Sansone V
Ital J Neurol Sci 1996 Oct;17(5):347-53. PMID: 8933228
Sander HW, Tavoulareas GP, Chokroverty S
Neurology 1996 Oct;47(4):956-62. PMID: 8857726

Clinical prediction guides

Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P
Muscle Nerve 2015 May;51(5):686-91. Epub 2015 Mar 31 doi: 10.1002/mus.24440. PMID: 25186227
Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F, Siciliano G, Mancuso M, Vitelli E, Zhang S, Krahe R, Moxley RT
Neuromuscul Disord 2003 Dec;13(10):813-21. PMID: 14678804
Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG
Neurosci Lett 2003 Sep 11;348(2):73-6. PMID: 12902021
Schneider-Gold C, Beck M, Wessig C, George A, Kele H, Reiners K, Toyka KV
Neurology 2003 Feb 11;60(3):500-2. PMID: 12578937
Kress W, Mueller-Myhsok B, Ricker K, Schneider C, Koch MC, Toyka KV, Mueller CR, Grimm T
Neuromuscul Disord 2000 Oct;10(7):478-80. PMID: 10996776

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