Finnish type amyloidosis; amyloidosis type 5; Meretoja type amyloidosis

Pathology

generalized amyloid deposition

Genetics

associated with mutations in gene for gelsolin

Clinical manifestations

• cranial neuropathy
  • facial paresis
  • bulbar palsy
• peripheral polyneuropathy, particularly loss of vibration & touch
• autonomic dysfunction does not occur
• lattice corneal dystrophy
• nephrotic syndrome
• renal failure
• cardiomyopathy
• cutis laxa
• most patients have modest involvement of internal organs

More general terms

• amyloidosis
• genetic disease of the peripheral nervous system

Additional terms

• gelsolin; actin-depolymerizing factor; ADF; brevin; AGEL (GSN)

Database

• OMIM: https://mirror.omim.org/entry/105120