spastic ataxia 5
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
MONDO:0017847
autosomal recessive spastic ataxia
is_a
MONDO:0700372
AFG3L2-related optic atrophy and/or spastic ataxia spectrum
is_a
AFG3L2 autosomal recessive spastic ataxia
exact
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
exact
AFG3L2-related spastic ataxia-neuropathy syndrome
exact
SPAX5
exact
autosomal recessive spastic ataxia caused by mutation in AFG3L2
exact
autosomal recessive spastic ataxia type 5
exact
spastic ataxia 5, autosomal recessive
related
spastic ataxia type 5
exact
SPBC543.09