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Optic atrophy 12
- Usher Syndrome (Genetic and Rare Diseases Information Center)Genetic and Rare Diseases Information Center ... Find symptoms and other information about Usher syndrome. ... From the National Institutes of Health ... Usher Syndrome/ ...
- ... rapid eye movements (saccades), and trouble moving the eyes side-to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within ...
- Assistive Devices: Positioning Aids (Slideshow) (Nemours Foundation)Nemours Foundation ... Easy-to-Read ... assistive devices, positioners, cerebral palsy, cp, special needs, chair, commode, stander, infant seat, wheelchair, bath, ...
- ... 4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Citation on PubMed or Free article on PubMed Central
- ... 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 ( ...
- Huntington Disease (Genetic and Rare Diseases Information Center)Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Huntington's Disease/Learn More ... Huntington's Disease ... Find symptoms and ...
- Myotonic Muscular Dystrophy (Muscular Dystrophy Association)Muscular Dystrophy Association ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... MDA is the #1 health nonprofit advancing research, care and advocacy for people ...
- ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Citation on PubMed ...
- ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Citation on PubMed ...
- ... in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye ...