has material basis in germline mutation in AFG3L2 spastic ataxia 5 https://github.com/monarch-initiative/mondo/issues/7826 https://www.malacards.org/card/spastic_ataxia_5 https://www.malacards.org/card/spastic_ataxia_5_autosomal_recessive DOID:0050944 GARD:0017409 autosomal recessive spastic ataxia caused by mutation in AFG3L2 MEDGEN:482607 MONDO:0013776 spastic ataxia 5, autosomal recessive UMLS:C3280977 autosomal recessive spastic ataxia type 5 SPAX5 AFG3L2-related spastic ataxia-neuropathy syndrome AFG3L2 autosomal recessive spastic ataxia 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. OMIM:614487 Orphanet:313772 AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome spastic ataxia type 5 autosomal recessive spastic ataxia AFG3L2-related optic atrophy and/or spastic ataxia spectrum