hereditary spastic paraplegia 6

MeSH: C536866ORPHA: 100988

Overview

hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has material basis in mutation in the NIPA1 gene on chromosome 15q11.2

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hereditary spastic paraplegia 6, sourced from HPO and Orphanet clinical annotations.

Spastic paraplegiaGait disturbanceLower limb spasticityLower limb hyperreflexiaImpaired vibratory sensationBabinski signPes cavusBilateral tonic-clonic seizureSkeletal muscle atrophyLimited hip movementLimitation of movement at anklesUrinary incontinencePostural tremor

Classification & Codes

MeSH Code

C536866

Orphanet Code

ORPHA:100988
hereditary spastic paraplegia 6
MeSHC536866
OrphanetORPHA:100988
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO