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Congenital muscular dystrophy, unclassified

MedGen UID:
440996
•Concept ID:
CN071817
•
Disease or Syndrome

Term Hierarchy

Recent clinical studies

Etiology

Cardiomyopathy in neurological disorders.
Finsterer J, Stöllberger C, Wahbi K
Cardiovasc Pathol 2013 Sep-Oct;22(5):389-400. Epub 2013 Feb 22 doi: 10.1016/j.carpath.2012.12.008. PMID: 23433859
Etiology and outcome of hydrops fetalis.
Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD
J Matern Fetal Med 2001 Jun;10(3):175-81. doi: 10.1080/714904328. PMID: 11444786
Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.
Topaloğlu H, Yetük M, Talim B, Akçören Z, Cağlar M
Eur J Paediatr Neurol 1997;1(4):127-31. doi: 10.1016/s1090-3798(97)80045-1. PMID: 10728208
Congenital myopathies.
Shield LK
Aust Paediatr J 1988;24 Suppl 1:77-9. PMID: 3202738
Possible neurogenic factor in muscular dystrophy: its similarity to denervation atrophy.
Dastur DK, Razzak ZA
J Neurol Neurosurg Psychiatry 1973 Jun;36(3):399-410. doi: 10.1136/jnnp.36.3.399. PMID: 4714102Free PMC Article

Diagnosis

Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Schessl J, Bach E, Rost S, Feldkirchner S, Kubny C, Müller S, Hanisch FG, Kress W, Schoser B
Neurogenetics 2014 Aug;15(3):151-6. Epub 2014 Jun 14 doi: 10.1007/s10048-014-0410-4. PMID: 24928145
Cardiomyopathy in neurological disorders.
Finsterer J, Stöllberger C, Wahbi K
Cardiovasc Pathol 2013 Sep-Oct;22(5):389-400. Epub 2013 Feb 22 doi: 10.1016/j.carpath.2012.12.008. PMID: 23433859
Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.
Freund AA, Scola RH, Arndt RC, Lorenzoni PJ, Kay CK, Werneck LC
Arq Neuropsiquiatr 2007 Mar;65(1):73-6. doi: 10.1590/s0004-282x2007000100016. PMID: 17420831
Etiology and outcome of hydrops fetalis.
Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD
J Matern Fetal Med 2001 Jun;10(3):175-81. doi: 10.1080/714904328. PMID: 11444786
Congenital myopathies.
Shield LK
Aust Paediatr J 1988;24 Suppl 1:77-9. PMID: 3202738

Therapy

Cardiomyopathy in neurological disorders.
Finsterer J, Stöllberger C, Wahbi K
Cardiovasc Pathol 2013 Sep-Oct;22(5):389-400. Epub 2013 Feb 22 doi: 10.1016/j.carpath.2012.12.008. PMID: 23433859
Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases.
Rodolico C, Toscano A, Autunno M, Messina S, Nicolosi C, Aguennouz M, Laurà M, Girlanda P, Messina C, Vita G
Neuromuscul Disord 2002 Dec;12(10):964-9. doi: 10.1016/s0960-8966(02)00137-2. PMID: 12467753

Prognosis

Etiology and outcome of hydrops fetalis.
Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD
J Matern Fetal Med 2001 Jun;10(3):175-81. doi: 10.1080/714904328. PMID: 11444786
Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.
Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, Beggs AH, Zatz M
Neuropediatrics 1997 Aug;28(4):223-8. doi: 10.1055/s-2007-973704. PMID: 9309713

Clinical prediction guides

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases.
Rodolico C, Toscano A, Autunno M, Messina S, Nicolosi C, Aguennouz M, Laurà M, Girlanda P, Messina C, Vita G
Neuromuscul Disord 2002 Dec;12(10):964-9. doi: 10.1016/s0960-8966(02)00137-2. PMID: 12467753
Etiology and outcome of hydrops fetalis.
Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD
J Matern Fetal Med 2001 Jun;10(3):175-81. doi: 10.1080/714904328. PMID: 11444786
Immunohistochemical evaluation of merosin deficiency in congenital muscular dystrophies.
Brett FM, Loring P, Caesar A, Burke M, Brennan RP, King M, Farrell MA
Arch Pathol Lab Med 1998 Jan;122(1):69-71. PMID: 9448020
A fluorescent microscopy study of biopsied muscles from infantile neuromuscular disorders.
Miike T, Tamari H, Ohtani Y, Nakamura H, Matsuda I, Miyoshino S
Acta Neuropathol 1983;59(1):48-52. doi: 10.1007/BF00690316. PMID: 6837268

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