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Autosomal recessive limb-girdle muscular dystrophy type 2D(LGMD2D; DMDA2)

MedGen UID:
424706
Concept ID:
C2936332
Disease or Syndrome
Synonyms: Adhalinopathies; Adhalinopathies, Primary; Adhalinopathy, Primary; Alpha Sarcoglycanopathies; Alpha Sarcoglycanopathy; Alpha-Sarcoglycanopathies; Alpha-Sarcoglycanopathy; Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2; Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; LGMD2D; Limb Girdle Muscular Dystrophy, Type 2D; Limb-Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency; Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency; Muscular Dystrophy, Limb-Girdle, Type 2D; Primary Adhalinopathies; Primary Adhalinopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 600119; 608099
Orphanet: ORPHA62

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive limb-girdle muscular dystrophy type 2D

Recent clinical studies

Etiology

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article

Diagnosis

Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ
J Neurol Sci 2016 Mar 15;362:304-8. Epub 2016 Feb 2 doi: 10.1016/j.jns.2016.02.002. PMID: 26944168
Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V
Genet Couns 2011;22(4):377-83. PMID: 22303798
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M
J Mol Neurosci 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71. PMID: 11665864
Quinlivan RM, Robb SA, Sewry C, Dubowitz V, Piccolo F, Kaplan JC
Dev Med Child Neurol 1997 Nov;39(11):770-4. PMID: 9393893

Therapy

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article

Prognosis

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article

Clinical prediction guides

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M
J Mol Neurosci 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71. PMID: 11665864

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