autosomal recessive cerebellar ataxia with late-onset spasticity https://www.malacards.org/card/autosomal_recessive_cerebellar_ataxia_with_late_onset_spasticity SCTID:763348005 Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. GARD:0021525 MEDGEN:1635411 MONDO:0018129 autosomal recessive cerebellar ataxia due to GBA2 deficiency UMLS:C4706412 Orphanet:352641 sphingolipidosis autosomal recessive metabolic cerebellar ataxia