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Autosomal recessive cerebellar ataxia with late-onset spasticity

MONDO:0018129

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.

Also known as: autosomal recessive cerebellar ataxia due to GBA2 deficiency

63 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Neurodegenerative disease (155) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Inborn errors of metabolism (42)
Trials to join now! 30 Not yet recruiting 7 Not yet finished but already full! 8 Completed 18
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