Neurogenic scapuloperoneal syndrome, Kaeser type

Disease Export to PDF
Name:
Neurogenic scapuloperoneal syndrome, Kaeser type
Description:
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.
ORPHAcode:
85146
Synonyms:
Kaeser syndrome
Stark-Kaeser syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14