/hereditary spastic paraplegia 35

hereditary spastic paraplegia 35

Rare Disease

MONDO:0012866

Also Known As

FA2H hereditary spastic paraplegiaSPG35autosomal recessive spastic paraplegia 35autosomal recessive spastic paraplegia type 35hereditary spastic paraplegia 35hereditary spastic paraplegia caused by mutation in FA2Hhereditary spastic paraplegia type 35leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonialeukodystrophy, dysmyelinating, and spastic paraparesis with or without dystoniaspastic paraplegia 35, autosomal recessive

Definition

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.