Autosomal dominant spastic paraplegia type 19

Disease Export to PDF
Name:
Autosomal dominant spastic paraplegia type 19
Description:
A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
ORPHAcode:
100999
Synonyms:
SPG19
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14