Autosomal dominant spastic paraplegia type 12

Disease Export to PDF
Name:
Autosomal dominant spastic paraplegia type 12
Description:
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
ORPHAcode:
100993
Synonyms:
SPG12
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14