/hereditary spastic paraplegia 4

hereditary spastic paraplegia 4

Rare Disease

MONDO:0008438

Also Known As

SPAST hereditary spastic paraplegiaSPG4autosomal dominant spastic paraplegia 4autosomal dominant spastic paraplegia type 4hereditary spastic paraplegia 4hereditary spastic paraplegia caused by mutation in SPASThereditary spastic paraplegia type 4FSP2familial spastic paraplegia autosomal dominant 2familial spastic paraplegia, autosomal dominant, 2spastic paraplegia 4spastic paraplegia 4, autosomal dominant

Definition

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.