Details of Disease

General Information of Disease (ID: DIS31BGJ)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2L
• Synonyms: limb-girdle muscular dystrophy type 2L; LGMD2L; muscular dystrophy, limb-girdle, autosomal recessive 12; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5; muscular dystrophy, limb-girdle, type 2L; ANO5 autosomal recessive limb-girdle muscular dystrophy
• Definition: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
• Disease Hierarchy:
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DIS31BGJ: Autosomal recessive limb-girdle muscular dystrophy type 2L
• Disease Identifiers:
  MONDO ID: MONDO_0012652
  MESH ID: C566968
  UMLS CUI: C1969785
  OMIM ID: 611307
  MedGen ID: 370102
  Orphanet ID: 206549
  SNOMED CT ID: 726616006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANO5	OTOW8R6H	Strong	Autosomal recessive	[1]

References

• [1] [Hyperviscosity syndrome in plasma cell dyscrasia]. Harefuah. 1979 Feb 1;96(3):161-3.