Autosomal recessive cerebellar ataxia with late-onset spasticity
Synonyms: Autosomal recessive cerebellar ataxia due to GBA2 deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Autosomal recessive cerebellar ataxia with late-onset spasticity?
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Advocacy Organizations
Ducks For Dementia
Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Clinical Trials
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