Neurogenic scapuloperoneal syndrome, Kaeser type
Engelsk navn: Neurogenic scapuloperoneal syndrome, Kaeser type
Engelske synonym: Kaeser syndrome,Stark-Kaeser syndrome
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.
Informasjon
Nevromuskulært kompetansesenter (UNN) har kunnskap om diagnosen.
ORPHA: 85146
Klassifiseringsnivå: DisorderICD-10: G12.1
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
