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Myosin storage myopathy(MSMA)

MedGen UID:
374868
Concept ID:
C1842160
Disease or Syndrome
Synonyms: MSMA; MYH7-Related Myosin Storage Myopathy; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Autosomal dominant hyaline body myopathy (699267007); Myosin storage myopathy (699267007)
 
Gene (location): MYH7 (14q11.2)
OMIM®: 608358

Definition

Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006). [from OMIM]

Additional description

From GHR
Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.  https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy

Clinical features

Disorder of cardiovascular system
MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
Any abnormality of the cardiovascular system.
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Reduced vital capacity
MedGen UID:
141657
Concept ID:
C0476408
Finding
An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Scapuloperoneal weakness
MedGen UID:
331234
Concept ID:
C1842161
Finding
Centrally nucleated skeletal muscle fibers
MedGen UID:
330782
Concept ID:
C1842170
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Type 1 muscle fiber predominance
MedGen UID:
344274
Concept ID:
C1854387
Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
Creatine phosphokinase, elevated serum
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise . Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.

Recent clinical studies

Etiology

Tajsharghi H, Oldfors A
Acta Neuropathol 2013 Jan;125(1):3-18. Epub 2012 Aug 5 doi: 10.1007/s00401-012-1024-2. PMID: 22918376Free PMC Article
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ
Neuromuscul Disord 2011 Apr;21(4):254-62. Epub 2011 Feb 1 doi: 10.1016/j.nmd.2010.12.011. PMID: 21288719
Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB
Neuromuscul Disord 2009 Feb;19(2):163-6. Epub 2009 Jan 12 doi: 10.1016/j.nmd.2008.11.012. PMID: 19138847
Oldfors A, Lamont PJ
Adv Exp Med Biol 2008;642:78-91. PMID: 19181095
Oldfors A
Neuromuscul Disord 2007 May;17(5):355-67. Epub 2007 Apr 16 doi: 10.1016/j.nmd.2007.02.008. PMID: 17434305

Diagnosis

Kitamura Y, Kondo E, Urano M, Aoki R, Saito K
J Hum Genet 2016 Nov;61(11):931-942. Epub 2016 Jun 30 doi: 10.1038/jhg.2016.79. PMID: 27357428
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG
Hum Mutat 2014 Jul;35(7):868-79. Epub 2014 May 21 doi: 10.1002/humu.22553. PMID: 24664454Free PMC Article
Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ
Neuromuscul Disord 2013 May;23(5):432-6. Epub 2013 Mar 9 doi: 10.1016/j.nmd.2013.02.009. PMID: 23478172Free PMC Article
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C
Neuromuscul Disord 2007 Apr;17(4):321-9. Epub 2007 Mar 2 doi: 10.1016/j.nmd.2007.01.010. PMID: 17336526
Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG
J Neurol Neurosurg Psychiatry 2006 Feb;77(2):208-15. Epub 2005 Aug 15 doi: 10.1136/jnnp.2005.073825. PMID: 16103042Free PMC Article

Prognosis

Tajsharghi H, Oldfors A, Macleod DP, Swash M
Neurology 2007 Mar 20;68(12):962. doi: 10.1212/01.wnl.0000257131.13438.2c. PMID: 17372140
Oldfors A, Tajsharghi H, Darin N, Lindberg C
Acta Myol 2004 Sep;23(2):90-6. PMID: 15605950
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG
Am J Hum Genet 2004 Oct;75(4):703-8. Epub 2004 Aug 20 doi: 10.1086/424760. PMID: 15322983Free PMC Article

Clinical prediction guides

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ
Neuromuscul Disord 2011 Apr;21(4):254-62. Epub 2011 Feb 1 doi: 10.1016/j.nmd.2010.12.011. PMID: 21288719
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG
Am J Hum Genet 2004 Oct;75(4):703-8. Epub 2004 Aug 20 doi: 10.1086/424760. PMID: 15322983Free PMC Article

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