Troyer syndrome

spastic paraplegia, autosomal recessive, type 20

A complex autosomal recessive form (OMIM:275900) of spastic paraplegiatype 20 is characterised by dysarthria, distal amyotrophy, mild developmental delay and short stature.

Molecular pathology
Caused by defects of SPG20, which encodes a protein thought to regulate endosomal trafficking and/or microtubule dynamics.

Troyer syndrome

(troy'er) [Amish family name in the U.S.] Hereditary spastic paraplegia.