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POMGNT2-related limb-girdle muscular dystrophy R24

MedGen UID:
1830095
•Concept ID:
C5680123
•
Disease or Syndrome
Synonyms: LGMD type R24; Limb girdle muscular dystrophy type R24; Limb-girdle muscular dystrophy type R24; limb-girdle muscular dystrophy type R24; POMGNT2-related LGMD R24; POMGNT2-related limb girdle muscular dystrophy R24; POMGNT2-related muscular dystrophy; Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24
SNOMED CT: Limb girdle muscular dystrophy type R24 (1279884000); POMGNT2-related limb girdle muscular dystrophy R24 (1279884000); POMGNT2-related muscular dystrophy (1279884000); Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (1279884000)
 
Monarch Initiative: MONDO:0035432
Orphanet: ORPHA565899

Definition

A rare autosomal recessive limb girdle muscular dystrophy with characteristics of infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPOMGNT2-related limb-girdle muscular dystrophy R24

Recent clinical studies

Etiology

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
Sun Y, Chen H, Lu Y, Duo J, Lei L, OuYang Y, Hao Y, Da Y, Shen XM
J Neurol 2019 Feb;266(2):498-506. Epub 2019 Jan 2 doi: 10.1007/s00415-018-9165-4. PMID: 30604053

Diagnosis

Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype.
Rayavarapu S, Van der Meulen JH, Gordish-Dressman H, Hoffman EP, Nagaraju K, Knoblach SM
PLoS One 2010 Sep 24;5(9):e12981. doi: 10.1371/journal.pone.0012981. PMID: 20886045Free PMC Article

Therapy

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.
Sreetama SC, Chandra G, Van der Meulen JH, Ahmad MM, Suzuki P, Bhuvanendran S, Nagaraju K, Hoffman EP, Jaiswal JK
Mol Ther 2018 Sep 5;26(9):2231-2242. Epub 2018 Aug 27 doi: 10.1016/j.ymthe.2018.07.021. PMID: 30166241Free PMC Article
Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype.
Rayavarapu S, Van der Meulen JH, Gordish-Dressman H, Hoffman EP, Nagaraju K, Knoblach SM
PLoS One 2010 Sep 24;5(9):e12981. doi: 10.1371/journal.pone.0012981. PMID: 20886045Free PMC Article

Prognosis

Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype.
Rayavarapu S, Van der Meulen JH, Gordish-Dressman H, Hoffman EP, Nagaraju K, Knoblach SM
PLoS One 2010 Sep 24;5(9):e12981. doi: 10.1371/journal.pone.0012981. PMID: 20886045Free PMC Article

Clinical prediction guides

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy.
Dadgar S, Wang Z, Johnston H, Kesari A, Nagaraju K, Chen YW, Hill DA, Partridge TA, Giri M, Freishtat RJ, Nazarian J, Xuan J, Wang Y, Hoffman EP
J Cell Biol 2014 Oct 13;207(1):139-58. doi: 10.1083/jcb.201402079. PMID: 25313409Free PMC Article
Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype.
Rayavarapu S, Van der Meulen JH, Gordish-Dressman H, Hoffman EP, Nagaraju K, Knoblach SM
PLoS One 2010 Sep 24;5(9):e12981. doi: 10.1371/journal.pone.0012981. PMID: 20886045Free PMC Article
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP
Am J Pathol 2008 Nov;173(5):1476-87. Epub 2008 Oct 2 doi: 10.2353/ajpath.2008.080098. PMID: 18832576Free PMC Article

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