has material basis in germline mutation in SPAST hereditary spastic paraplegia 4 https://github.com/monarch-initiative/mondo/issues/6279 https://www.malacards.org/card/spastic_paraplegia_4_autosomal_dominant OMIM:182601 spastic paraplegia 4, autosomal dominant NCIT:C129981 MONDO:0008438 SPAST hereditary spastic paraplegia SCTID:723820001 hereditary spastic paraplegia 4 SPG4 familial spastic paraplegia autosomal dominant 2 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. autosomal dominant spastic paraplegia type 4 hereditary spastic paraplegia type 4 MESH:C536865 hereditary spastic paraplegia caused by mutation in SPAST GARD:0004925 Orphanet:100985 UMLS:C1866855 DOID:0110792 FSP2 spastic paraplegia 4 MEDGEN:401097 hereditary spastic paraplegia SPAST-related motor disorder