Request for new term [SNUPN-related muscular dystrophy with or without multi-system involvement]

[clauseMDM]

Label

SNUPN-related muscular dystrophy with or without multi-system involvement

Synonyms

limb-girdle muscular dystrophy autosomal recessive 29 (MIM 620793)

Synonym type

narrow

Definition

A form of muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene (PMID:38413582, PMID:38366623). The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.

Parent term

MONDO:0020121 muscular dystrophy

Children term(s)

No response

ORCID Identifier

https://orcid.org/0000-0002-2078-7280

Website URL

https://clinicalgenome.org/affiliation/40151/

Additional comments

This is the preferred term defined by the ClinGen Muscular Dystrophies and Myopathies Gene Curation Expert Panel. This term encompasses limb-girdle muscular dystrophy autosomal recessive 29 (MIM 620793), but the phenotypic spectrum associated with variation is this gene is broader than limb girdle muscular dystrophy; hence the request for a new term.