Hereditary spastic paraplegia type 20

Also known as: SPG20; Troyer syndrome

Recessive HSP with distal amyotrophy and short stature.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, childhood onset; Amish families
Gene(s) involved: SPART

Etiology & mechanism

Spartin mutations, described in Old Order Amish.

Gene(s) involved (1)

SPART

Symptoms & signs (3)

distal amyotrophyshort staturespastic paraparesis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.