Review nomenclature updates to limb-girdle muscular dystrophies

[allenbaron]

It appears that the scientific community has updated the names of the limb-girdle muscular dystrophies (subclasses of DOID:11724).

At least some of these changes have been made in OMIM & Orphanet (examples: https://omim.org/entry/617232, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480682).

The name changes need to be reviewed and the DO updated with either the new names as labels or as synonyms.

Relevant sources:

• 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification, https://pubmed.ncbi.nlm.nih.gov/30055862/
  • probably the most relevant and official document
• LGMD. Identification, description and classification, https://pubmed.ncbi.nlm.nih.gov/33458576/
  • includes history of LGMD, likely less relevant but more recently published so may include additional subtypes
• Limb-Girdle Muscular Dystrophies Classification and Therapies, https://pubmed.ncbi.nlm.nih.gov/37510884/
  • 2023 publication that may be relevant

Additional supporting sources:

• https://www.curecmd.org/post/2020/01/17/significant-updates-to-lgmd-definitions-and-nomenclature
• https://www.mda.org/disease/limb-girdle-muscular-dystrophy
• https://www.enmc.org/download/limb-girdle-muscular-dystrophies-nomenclature-and-reformed-classification/

[allenbaron]

Should also check for any new subtypes from OMIM/Orphanet and missing xrefs to Orphanet, GARD, and UMLS.