/autosomal recessive spinocerebellar ataxia 7

autosomal recessive spinocerebellar ataxia 7

Rare Disease

MONDO:0012235

Also Known As

SCAR7autosomal recessive spinocerebellar ataxia type 7spinocerebellar ataxia, autosomal recessive type 7childhood onset autosomal recessive slowly progressive spinocerebellar ataxiachildhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaspinocerebellar ataxia autosomal recessive 7spinocerebellar ataxia, autosomal recessive 7

Definition

Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.