hereditary spastic paraplegia 4
Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100523
SPAST-related motor disorder
is_a
FSP2
related
SPAST hereditary spastic paraplegia
exact
SPG4
exact
autosomal dominant spastic paraplegia type 4
exact
familial spastic paraplegia autosomal dominant 2
related
hereditary spastic paraplegia 4
exact
hereditary spastic paraplegia caused by mutation in SPAST
exact
hereditary spastic paraplegia type 4
exact
spastic paraplegia 4
related
spastic paraplegia 4, autosomal dominant
related
SPBC947.01 SPAC328.04