Details of Disease

General Information of Disease (ID: DISIHX4S)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2A
• Synonyms: muscular dystrophy, Pelvofemoral; limb-girdle muscular dystrophy type 2; myositis, eosinophilic; muscular dystrophy limb girdle type 2A, erb type; LGMD2; muscular dystrophy, limb-girdle, type 2; Leyden-Moebius muscular dystrophy; limb-girdle muscular dystrophy due to calpain deficiency; calpainopathy; autosomal recessive limb-girdle muscular dystrophy type 2A; muscular dystrophy, limb-girdle, autosomal recessive 1; pelvofemoral muscular dystrophy; primary calpainopathy; CAPN3 autosomal recessive limb-girdle muscular dystrophy; limb-girdle muscular dystrophy type 2A; LGMD2A; autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3; muscular dystrophy, limb-girdle, type 2A
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
• Disease Hierarchy:
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISIHX4S: Autosomal recessive limb-girdle muscular dystrophy type 2A
• Disease Identifiers:
  MONDO ID: MONDO_0009675
  MESH ID: C535895
  UMLS CUI: C1869123
  OMIM ID: 253600
  MedGen ID: 358391
  Orphanet ID: 267
  SNOMED CT ID: 715341003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Strong	Biomarker	[1]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANO5	OTOW8R6H	Strong	Genetic Variation	[2]
CAPN5	OTQ8QM7K	Strong	Genetic Variation	[3]
COG3	OTKJMB1Q	Strong	Biomarker	[4]
FKRP	OTMUZ7GH	Strong	Biomarker	[2]
FKTN	OTQ9GCXL	Strong	Biomarker	[5]
FRZB	OTTO3DPY	Strong	Altered Expression	[6]
POMT1	OTGQSHL5	Strong	Genetic Variation	[7]
SGCD	OTRBL3NQ	Strong	Genetic Variation	[8]
CAPN3	OTCHG3YK	Definitive	Autosomal recessive	[9]

References

• [1] Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.Muscle Nerve. 2018 Oct;58(4):550-558. doi: 10.1002/mus.26189. Epub 2018 Aug 22.
• [2] Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.BMC Neurol. 2014 Aug 19;14:154. doi: 10.1186/s12883-014-0154-7.
• [3] Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.Muscle Nerve. 1998 Nov;21(11):1493-501. doi: 10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co;2-1.
• [4] Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.J Biol Chem. 2010 Jul 23;285(30):22986-98. doi: 10.1074/jbc.M110.126946. Epub 2010 May 11.
• [5] Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?.Arq Neuropsiquiatr. 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110.
• [6] FRZB and melusin, overexpressed in LGMD2A, regulate integrin 1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.Expert Rev Mol Med. 2017 Mar 16;19:e2. doi: 10.1017/erm.2017.3.
• [7] An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.Neuromuscul Disord. 2005 Apr;15(4):271-5. doi: 10.1016/j.nmd.2005.01.013.
• [8] Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics. 1997 May;1(1):49-58. doi: 10.1007/s100480050008.
• [9] 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.