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Neurogenic scapuloperoneal syndrome, Kaeser type

Disease definition

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.

ORPHA:85146

Classification level: Disorder
  • Synonym(s):
    • Kaeser syndrome
    • Stark-Kaeser syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G12.1
  • OMIM: 181400
  • UMLS: C1867005
  • MeSH: -
  • GARD: 10312
  • MedDRA: -
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