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Autosomal dominant optic atrophy peripheral neuropathy
- ... mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome involves vision ... of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. ...
- ... 4C; CMT4C CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 ... AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE ...
- ... nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements ( ...