facioscapulohumeral muscular dystrophy 4

Term ID

DOID:0060918

Synonyms

• facioscapulohumeral muscular dystrophy type 4
• FSHD4

Definition

A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/27153398/

References

• OMIM:619478

Ontology

Human Disease   ( DOID:0060918 )