Machado-Joseph disease

info · Genetic

An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

Signs and symptoms

Ataxia
Gaze-evoked nystagmus
External ophthalmoplegia
Dysarthria
Bradykinesia
Impaired horizontal smooth pursuit
Distal amyotrophy
Cerebellar atrophy
Abnormal electrooculogram
Rigidity

Also known as: Azorean disease; MJD; SCA3; spinocerebellar ataxia 3; spinocerebellar ataxia type 3