Hereditary Spastic Paraparesis 49

Hereditary Spastic Paraparesis 49 [TECPR2]: A complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 27