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Hypoglycosylation of alpha-dystroglycan

MedGen UID:
863535
Concept ID:
C4015098
Finding
HPO: HP:0030046

Definition

A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoglycosylation of alpha-dystroglycan

Conditions with this feature

Autosomal recessive limb-girdle muscular dystrophy type 2K
MedGen UID:
332193
Concept ID:
C1836373
Disease or Syndrome
Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C) Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (613158), caused by mutation in the POMT2 gene (607439); MDDGC3 (613157), caused by mutation in the POMGNT1 gene (606822); MDDGC4 (611588), caused by mutation in the FKTN gene (607440); MDDGC5 (607155), caused by mutation in the FKRP gene (606596); MDDGC7 (616052), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGC8 (618135), caused by mutation in the POMGNT2 gene (614828); MDDGC9 (613818) caused by mutation in the DAG1 gene (128239); MDDGC12 (616094), caused by mutation in the POMK gene (615247); MDDGC14 (615352) caused by mutation in the GMPPB gene (615320); and MDDGC15 (612937), caused by mutation in the DPM3 gene (605951).
Autosomal recessive limb-girdle muscular dystrophy type 2M
MedGen UID:
370585
Concept ID:
C1969040
Disease or Syndrome
MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
MedGen UID:
815546
Concept ID:
C3809216
Disease or Syndrome
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MedGen UID:
815551
Concept ID:
C3809221
Disease or Syndrome
MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Autosomal recessive limb-girdle muscular dystrophy type 2P
MedGen UID:
1386785
Concept ID:
C4511963
Disease or Syndrome
MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Autosomal recessive limb-girdle muscular dystrophy type 2T
MedGen UID:
1377325
Concept ID:
C4518000
Disease or Syndrome
MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Autosomal recessive limb-girdle muscular dystrophy type 2U
MedGen UID:
1683417
Concept ID:
C5190987
Disease or Syndrome
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers'' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.
Muscular dystrophy, congenital, with or without seizures
MedGen UID:
1824047
Concept ID:
C5774274
Disease or Syndrome
Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).

Professional guidelines

PubMed

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network
Orphanet J Rare Dis 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. PMID: 30257713Free PMC Article

Recent clinical studies

Etiology

Nickolls AR, Bönnemann CG
Dis Model Mech 2018 Dec 19;11(12) doi: 10.1242/dmm.035931. PMID: 30578246Free PMC Article
Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA
Skelet Muscle 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. PMID: 29855340Free PMC Article
Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I
Neurology 2015 Jan 20;84(3):273-9. Epub 2014 Dec 12 doi: 10.1212/WNL.0000000000001162. PMID: 25503980
Sewry CA
Acta Neuropathol 2010 Sep;120(3):343-58. Epub 2010 Jul 23 doi: 10.1007/s00401-010-0727-5. PMID: 20652576
Hewitt JE
Biochim Biophys Acta 2009 Sep;1792(9):853-61. Epub 2009 Jun 17 doi: 10.1016/j.bbadis.2009.06.003. PMID: 19539754

Diagnosis

Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C
Acta Neuropathol 2020 Mar;139(3):565-582. Epub 2020 Jan 3 doi: 10.1007/s00401-019-02117-6. PMID: 31897643Free PMC Article
Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA
Skelet Muscle 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. PMID: 29855340Free PMC Article
Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I
Neurology 2015 Jan 20;84(3):273-9. Epub 2014 Dec 12 doi: 10.1212/WNL.0000000000001162. PMID: 25503980
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article
Brancaccio A
Neuromuscul Disord 2005 Dec;15(12):825-8. Epub 2005 Nov 8 doi: 10.1016/j.nmd.2005.08.003. PMID: 16289897

Prognosis

von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM
Neuropediatrics 2020 Feb;51(1):72-75. Epub 2019 Oct 18 doi: 10.1055/s-0039-1695787. PMID: 31627234
Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE
Neuromuscul Disord 2009 May;19(5):352-6. Epub 2009 Apr 1 doi: 10.1016/j.nmd.2009.03.001. PMID: 19342235Free PMC Article
Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F
Brain Pathol 2009 Oct;19(4):596-611. Epub 2008 Aug 7 doi: 10.1111/j.1750-3639.2008.00198.x. PMID: 18691338Free PMC Article
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article
Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F
Hum Mol Genet 2005 Mar 1;14(5):657-65. Epub 2005 Jan 20 doi: 10.1093/hmg/ddi062. PMID: 15661757

Clinical prediction guides

Boyd A, Montandon M, Wood AJ, Currie PD
Bioessays 2022 May;44(5):e2100270. Epub 2022 Mar 1 doi: 10.1002/bies.202100270. PMID: 35229908
Uribe ML, Martín-Nieto J, Quereda C, Rubio-Fernández M, Cruces J, Janssen GMC, de Ru AH, van Veelen PA, Hensbergen PJ
J Proteome Res 2021 Jun 4;20(6):3268-3277. Epub 2021 May 23 doi: 10.1021/acs.jproteome.1c00126. PMID: 34027671Free PMC Article
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C
Acta Neuropathol 2020 Mar;139(3):565-582. Epub 2020 Jan 3 doi: 10.1007/s00401-019-02117-6. PMID: 31897643Free PMC Article
Bhattacharya S, Das A, Ghosh S, Dasgupta R, Bagchi A
Gene 2014 Mar 1;537(1):108-14. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.071. PMID: 24361964
Esser AK, Miller MR, Huang Q, Meier MM, Beltran-Valero de Bernabé D, Stipp CS, Campbell KP, Lynch CF, Smith BJ, Cohen MB, Henry MD
J Biol Chem 2013 Jan 25;288(4):2132-42. Epub 2012 Dec 6 doi: 10.1074/jbc.M112.432807. PMID: 23223448Free PMC Article

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