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Muscle fiber inclusion bodies

MedGen UID:
867769
Concept ID:
C4022159
Finding
Synonym: Muscle fibre inclusion bodies
 
HPO: HP:0100299

Conditions with this feature

Myopathy, proximal, and ophthalmoplegia
MedGen UID:
381340
Concept ID:
C1854106
Disease or Syndrome
Congenital myopathy-6 with ophthalmoplegia (CMYP6) is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. CMYP6 can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Amyotrophic lateral sclerosis type 20
MedGen UID:
811608
Concept ID:
C3715156
Disease or Syndrome
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
MedGen UID:
815799
Concept ID:
C3809469
Disease or Syndrome
Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.
Polyglucosan body myopathy type 2
MedGen UID:
863889
Concept ID:
C4015452
Disease or Syndrome
Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014). For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895).

Recent clinical studies

Etiology

Hoei-Hansen CE, Tygesen MLB, Dunø M, Vissing J, Ballegaard M, Born AP
Neuropediatrics 2021 Dec;52(6):462-468. Epub 2021 Mar 11 doi: 10.1055/s-0041-1726120. PMID: 33706403
Lu JQ, Monaco CMF, Hawke TJ, Yan C, Tarnopolsky MA
J Neurol Sci 2020 Jun 15;413:116816. Epub 2020 Apr 1 doi: 10.1016/j.jns.2020.116816. PMID: 32272361
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944
Sharma MC, Goebel HH
Neurol India 2005 Sep;53(3):273-9. doi: 10.4103/0028-3886.16921. PMID: 16230791
Goebel HH
Muscle Nerve 2003 May;27(5):527-48. doi: 10.1002/mus.10322. PMID: 12707973

Diagnosis

Liu C, Luan X, Liu X, Wang X, Cai X, Li T, Cao L, Long D
Neurol Sci 2022 May;43(5):3231-3237. Epub 2021 Nov 19 doi: 10.1007/s10072-021-05748-4. PMID: 34797461
Hoei-Hansen CE, Tygesen MLB, Dunø M, Vissing J, Ballegaard M, Born AP
Neuropediatrics 2021 Dec;52(6):462-468. Epub 2021 Mar 11 doi: 10.1055/s-0041-1726120. PMID: 33706403
Lu JQ, Monaco CMF, Hawke TJ, Yan C, Tarnopolsky MA
J Neurol Sci 2020 Jun 15;413:116816. Epub 2020 Apr 1 doi: 10.1016/j.jns.2020.116816. PMID: 32272361
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944
Askanas V, Engel WK, Mirabella M
Curr Opin Neurol 1994 Oct;7(5):448-56. PMID: 7804466

Therapy

Cotton J, Edwards J, Rahman MA, Brumby S
Environ Health 2018 Apr 2;17(1):31. doi: 10.1186/s12940-018-0374-1. PMID: 29606131Free PMC Article
Temiz P, Weihl CC, Pestronk A
J Neurol Sci 2009 Mar 15;278(1-2):25-9. Epub 2008 Dec 20 doi: 10.1016/j.jns.2008.11.010. PMID: 19101700
Askanas V, Engel WK
Curr Opin Neurol 2002 Oct;15(5):525-31. doi: 10.1097/00019052-200210000-00002. PMID: 12351995
O'Gorman E, Piendl T, Müller M, Brdiczka D, Wallimann T
Mol Cell Biochem 1997 Sep;174(1-2):283-9. PMID: 9309701
Kalovidouris AE
Curr Opin Rheumatol 1992 Dec;4(6):809-14. PMID: 1333783

Prognosis

Ayaki T, Murata K, Kanazawa N, Uruha A, Ohmura K, Sugie K, Kasagi S, Li F, Mori M, Nakajima R, Sasai T, Nishino I, Ueno S, Urushitani M, Furukawa F, Ito H, Takahashi R
Neuropathol Appl Neurobiol 2020 Oct;46(6):579-587. Epub 2020 Mar 25 doi: 10.1111/nan.12614. PMID: 32144790
Temiz P, Weihl CC, Pestronk A
J Neurol Sci 2009 Mar 15;278(1-2):25-9. Epub 2008 Dec 20 doi: 10.1016/j.jns.2008.11.010. PMID: 19101700
Ohsawa M, Liewluck T, Ogata K, Iizuka T, Hayashi Y, Nonaka I, Sasaki M, Nishino I
Brain Dev 2007 Mar;29(2):112-6. Epub 2006 Aug 21 doi: 10.1016/j.braindev.2006.06.010. PMID: 16919903
Drost MR, Hesselink RP, Oomens CW, van der Vusse GJ
J Biomech 2005 May;38(5):1035-43. doi: 10.1016/j.jbiomech.2004.05.040. PMID: 15797585
Lindberg C, Borg K, Edström L, Hedström A, Oldfors A
J Neurol Sci 1991 May;103(1):76-81. doi: 10.1016/0022-510x(91)90287-h. PMID: 1650819

Clinical prediction guides

Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C
Acta Neuropathol 2022 Dec;144(6):1157-1170. Epub 2022 Oct 5 doi: 10.1007/s00401-022-02503-7. PMID: 36197469Free PMC Article
Liu C, Luan X, Liu X, Wang X, Cai X, Li T, Cao L, Long D
Neurol Sci 2022 May;43(5):3231-3237. Epub 2021 Nov 19 doi: 10.1007/s10072-021-05748-4. PMID: 34797461
Chambers JK, Thongtharb A, Shiga T, Azakami D, Saito M, Sato M, Morozumi M, Nakayama H, Uchida K
Vet Pathol 2018 Jul;55(4):543-551. Epub 2018 Feb 14 doi: 10.1177/0300985818758471. PMID: 29444631
Beyenburg S, Zierz S, Jerusalem F
Clin Investig 1993 May;71(5):351-61. doi: 10.1007/BF00186623. PMID: 8389626
Sulaiman WR, Doyle D, Johnson RH, Jennett S
J Neurol Neurosurg Psychiatry 1974 Nov;37(11):1236-46. doi: 10.1136/jnnp.37.11.1236. PMID: 4376164Free PMC Article

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