Hereditary spastic paraplegia 4

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.

Also known as autosomal dominant spastic paraplegia type 4, hereditary spastic paraplegia 4, hereditary spastic paraplegia caused by mutation in SPAST, hereditary spastic paraplegia type 4, SPAST hereditary spastic paraplegia, SPG4 — per MONDO

Also identified as

• DOID 0110792 per MONDO
• MESH C536865 per MONDO
• NCIT C129981 per MONDO
• OMIM 182601 per MONDO
• Orphanet 100985 per MONDO
• SCTID 723820001 per MONDO
• UMLS C1866855 per MONDO

Affected Organs