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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
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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

Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Reduced vital capacity
MedGen UID:
141709
Concept ID:
C0520831
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.
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
A reduction in the strength of muscles in multiple anatomic sites.
Generalized limb muscle atrophy
MedGen UID:
333018
Concept ID:
C1838114
Disease or Syndrome
Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
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
Scapuloperoneal amyotrophy
MedGen UID:
331235
Concept ID:
C1842162
Finding
Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
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).
EMG: myopathic abnormalities
MedGen UID:
867362
Concept ID:
C4021726
Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Li N, Zhao Z, Shen H, Bing Q, Guo X, Hu J
Neurol Sci 2018 Feb;39(2):333-339. Epub 2017 Nov 24 doi: 10.1007/s10072-017-3192-2. PMID: 29170849
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies.
Orphanet J Rare Dis 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. PMID: 27387980Free PMC Article
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

Diagnosis

Li N, Zhao Z, Shen H, Bing Q, Guo X, Hu J
Neurol Sci 2018 Feb;39(2):333-339. Epub 2017 Nov 24 doi: 10.1007/s10072-017-3192-2. PMID: 29170849
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies.
Orphanet J Rare Dis 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. PMID: 27387980Free PMC Article
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
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

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

Viswanathan MC, Tham RC, Kronert WA, Sarsoza F, Trujillo AS, Cammarato A, Bernstein SI
Hum Mol Genet 2017 Dec 15;26(24):4799-4813. doi: 10.1093/hmg/ddx359. PMID: 28973424Free PMC Article
Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B
BMC Med Genet 2017 Sep 19;18(1):105. doi: 10.1186/s12881-017-0463-y. PMID: 28927399Free 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
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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