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Polyglucosan body myopathy

MedGen UID:: 832905
•Concept ID:: CN228160
•: Disease or Syndrome

Synonym:	polyglucosan body myopathy

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	RBCK1, GYG1

Monarch Initiative:	MONDO:0000192
OMIM® Phenotypic series:	PS615895

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPolyglucosan body myopathy
- CROGVPolyglucosan body myopathy type 1
  - CROGVPolyglucosan body myopathy 1 with immunodeficiency
  - CROGVPolyglucosan body myopathy 1 without immunodeficiency
- CROGVPolyglucosan body myopathy type 2

Polyglucosan body myopathy
- Polyglucosan body myopathy type 1
  - Polyglucosan body myopathy 1 with immunodeficiency
  - Polyglucosan body myopathy 1 without immunodeficiency
- Polyglucosan body myopathy type 2

Professional guidelines

PubMed

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138

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Recent clinical studies

Etiology

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R
Neuromuscul Disord 2018 Apr;28(4):346-349. Epub 2018 Jan 10 doi: 10.1016/j.nmd.2018.01.002. PMID: 29422440

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Diagnosis

A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.

Sun Q, Xie Z, Song L, Fu D
Mol Genet Genomic Med 2024 Apr;12(4):e2432. doi: 10.1002/mgg3.2432. PMID: 38588043 Free PMC Article

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Oliwa A, Langlands G, Sarkozy A, Munot P, Stewart W, Phadke R, Topf A, Straub V, Duncan R, Wigley R, Petty R, Longman C, Farrugia ME
Neuromuscul Disord 2023 Sep;33(9):98-105. Epub 2023 Jul 23 doi: 10.1016/j.nmd.2023.07.004. PMID: 37598009

Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy.

Soontrapa P, Tracy JA, Gonsalves WI, Liewluck T
Eur J Neurol 2023 Oct;30(10):3404-3406. Epub 2023 Aug 11 doi: 10.1111/ene.16008. PMID: 37522432

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China.

Chen L, Wang N, Hu W, Yu X, Yang R, Han Y, Yan Y, Nian N, Sha C
BMC Musculoskelet Disord 2021 Jan 7;22(1):35. doi: 10.1186/s12891-020-03884-0. PMID: 33413275 Free PMC Article

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

See all (6)

Prognosis

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

MozafaryBazargany M, Esmaeili S, Hesami M, Houshmand G, Mahdavi M, Maleki M, Kalayinia S
ESC Heart Fail 2024 Jun;11(3):1472-1482. Epub 2024 Feb 8 doi: 10.1002/ehf2.14702. PMID: 38329383 Free PMC Article

Spontaneous Restoration of Nutrition Autonomy in a Case of Intestinal Failure Secondary to a Gastrointestinal Neuromuscular Disease.

McCulloch A, Malhi H, Parkinson S, Martin JE, Cooper SC
Nutr Clin Pract 2019 Dec;34(6):935-939. Epub 2019 May 10 doi: 10.1002/ncp.10312. PMID: 31074888

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F
J Neurol 2018 Feb;265(2):394-401. Epub 2017 Dec 19 doi: 10.1007/s00415-017-8710-x. PMID: 29260357 Free PMC Article

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Clinical prediction guides

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

A mild juvenile variant of type IV glycogenosis.

Reusche E, Aksu F, Goebel HH, Shin YS, Yokota T, Reichmann H
Brain Dev 1992 Jan;14(1):36-43. doi: 10.1016/s0387-7604(12)80277-4. PMID: 1375445

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Polyglucosan body myopathy

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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