has material basis in germline mutation in TPP1 autosomal recessive spinocerebellar ataxia 7 https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_7 childhood onset autosomal recessive slowly progressive spinocerebellar ataxia DOID:0080059 MESH:C563753 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. childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia OMIM:609270 Orphanet:284324 spinocerebellar ataxia, autosomal recessive 7 GARD:0012232 MONDO:0012235 MEDGEN:324520 spinocerebellar ataxia autosomal recessive 7 spinocerebellar ataxia, autosomal recessive type 7 autosomal recessive spinocerebellar ataxia type 7 SCAR7 UMLS:C1836474 autosomal recessive cerebellar ataxia