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Autosomal recessive spinocerebellar ataxia 12

MONDO:0013687

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

Also known as: SCAR12, WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome, WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia type 12, spinocerebellar ataxia, autosomal recessive type 12

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

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Broader categories

Disease (618) Epilepsy (398) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Cerebellar ataxia (32) Human disease (14)
Trials to join now! 18 Not yet recruiting 3 Not yet finished but already full! 5 Completed 7
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