Spinocerebellar ataxia type 7

Imported from GeneReviews

Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.

Imported from Human Phenotype Ontology (HPO)

• Chorea
• Dysphagia
• Dysarthria
• Macular degeneration
• Spasticity
• Nystagmus
• Olivopontocerebellar atrophy
• Optic atrophy
• Babinski sign
• Tremor
• Hyperreflexia
• Orofacial dyskinesia
• Abnormality of extrapyramidal motor function
• Dysmetria
• Mental deterioration
• Progressive cerebellar ataxia
• Slow saccadic eye movements
• Supranuclear ophthalmoplegia
• Progressive visual loss
• Pigmentary retinopathy