Details of Disease

General Information of Disease (ID: DISRD6EW)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2D
• Synonyms: Duchenne-like autosomal recessive muscular dystrophy, type 2; Adhalinopathy, primary; limb-girdle muscular dystrophy, type 2D; muscular dystrophy limb-girdle with alpha-sarcoglycan; muscular dystrophy, limb-girdle, autosomal recessive 3; autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA; muscular dystrophy, limb-girdle, type 2D; LGMD2D; limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2D; SGCA autosomal recessive limb-girdle muscular dystrophy; primary adhalinopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; DMDA2; Alpha-sarcoglycanopathy
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
• Disease Hierarchy:
  DISLW0LV: Qualitative or quantitative defects of alpha-sarcoglycan
  DISBHDU9: Familial dilated cardiomyopathy
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISRD6EW: Autosomal recessive limb-girdle muscular dystrophy type 2D
• Disease Identifiers:
  MONDO ID: MONDO_0011968
  MESH ID: D058088
  UMLS CUI: C2936332
  OMIM ID: 608099
  MedGen ID: 424706
  Orphanet ID: 62
  SNOMED CT ID: 715340002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Strong	Biomarker	[1]
SGCB	TTEDCQ0	Strong	Biomarker	[1]
SGCA	TTS9Q5V	Definitive	Autosomal recessive	[2]
SGCA	TTS9Q5V	Definitive	Altered Expression	[3]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF3K	OTGTKVGO	moderate	Altered Expression	[4]
FKRP	OTMUZ7GH	moderate	Biomarker	[5]
CAPN3	OTCHG3YK	Strong	Biomarker	[5]
SGCA	OTCLJVZV	Definitive	Autosomal recessive	[2]

References

• [1] Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.Am J Med Genet. 1999 Feb 19;82(5):392-8. doi: 10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion.Hum Gene Ther. 2019 Jul;30(7):794-801. doi: 10.1089/hum.2019.006. Epub 2019 Apr 19.
• [4] Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.
• [5] Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.J Neurol. 2005 May;252(5):538-47. doi: 10.1007/s00415-005-0684-4. Epub 2005 Feb 23.