spastic ataxia 2
Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
MONDO:0017845
spastic ataxia
is_a
KIF1C spastic ataxia
exact
SPAX2
exact
SPG58
exact
autosomal recessive spastic ataxia type 2
exact
spastic ataxia 2
exact
spastic ataxia 2, autosomal recessive
related
spastic ataxia caused by mutation in KIF1C
exact
spastic ataxia type 2
exact
SPAC144.14