neurogenic scapuloperoneal syndrome Kaeser type

Term ID

DOID:0111551

Synonyms

• Kaeser syndrome
• scapuloperoneal syndrome type Kaeser
• scapuloperoneal syndrome, neurogenic, Kaeser type
• Stark-Kaeser syndrome

Definition

A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. https://www.ncbi.nlm.nih.gov/pubmed/17439987

References

• GARD:10312
• MESH:C566695
• OMIM:181400
• ORDO:85146
• SNOMEDCT_US_2023_03_01:1208615009
• UMLS_CUI:C1867005

Ontology

Human Disease   ( DOID:0111551 )