autosomal recessive spinocerebellar ataxia 12

Rare Disease

MONDO:0013687

Also Known As

SCAR12WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndromeWWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndromeautosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOXautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOXautosomal recessive spinocerebellar ataxia 12autosomal recessive spinocerebellar ataxia type 12spinocerebellar ataxia, autosomal recessive type 12autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiencyspinocerebellar ataxia with intellectual disability and epilepsyspinocerebellar ataxia with mental retardation and epilepsyspinocerebellar ataxia, autosomal recessive 12

Definition

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.