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

More general terms

• muscular disease; myopathy
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/181400