Orphanet: Neurogenic scapuloperoneal syndrome, Kaeser type
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.