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neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)
Pathology:
- histological & immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin
Genetics:
- autosomal dominant
- associated with defects in desmin
Clinical manifestations:
- peculiar scapuloperoneal distribution of weakness & atrophy
- large clinical variability, ranging from scapuloperoneal, limb grindle & distal phenotypes with variable cardiac or respiratory involvement
- facial weakness, dysphagia & gynaecomastia are frequent additional symptoms
- affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women
General
muscular disease; myopathy
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 181400
References
OMIM :accession 181400