Progressive external ophthalmoplegia, autosomal recessive 1
Alternate names[edit | edit source]
Progressive external ophthalmoplegia with cerebellar ataxia infantile; Autosomal recessive progressive external ophthalmoplegia; Cerebellar ataxia infantile with progressive external ophthalmoplegia; arPEO
Definition[edit | edit source]
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.
NIH genetic and rare disease info[edit source]
Progressive external ophthalmoplegia, autosomal recessive 1 is a rare disease.
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