Results 1 -
6
of
6
for
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 ...
- Spinocerebellar Ataxias Including Machado-Joseph Disease (National Institute of Neurological Disorders and Stroke)Cerebellar Disorders/Specifics ... Cerebellar Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Spinocerebellar ...
- ... 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 ( ...
- Leukodystrophy (National Institute of Neurological Disorders and Stroke)Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
- Adult Refsum disease (National Institute of Neurological Disorders and Stroke)Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Leukodystrophy ...