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Atrophy
- ... have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision ... same family. People with this condition have degeneration (atrophy) of the optic nerves, which carry information from ...
- ... gene mutations have been found to cause gyrate atrophy of the choroid and retina (often shortened to gyrate atrophy). These mutations result in a reduced amount of ...
- ... can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. ... information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ...
- ... gene have been found to cause spinal muscular atrophy. This condition is characterized by a loss of motor neurons that leads to weakness and wasting (atrophy) in muscles used for movement (skeletal muscles) that ...
- ... the SMN2 gene do not cause spinal muscular atrophy, but they modify the severity of the disorder. ... motor neurons that leads to weakness and wasting (atrophy) in muscles used for movement (skeletal muscles) that ...
- ... OPA1 gene have been found to cause optic atrophy type 1. This condition typically results in vision ... of the OPA1 gene mutations that cause optic atrophy type 1 create a premature stop signal in ...
- ... suggested to increase the risk of multiple system atrophy, a progressive brain disorder that affects movement and ... with an increased risk of developing multiple system atrophy in the Japanese population. However, studies have not ...
- ... a condition called GARS1 infantile-onset spinal muscular atrophy (also known as infantile spinal muscular atrophy, James type). Affected individuals often show weak muscle ...
- ... found to increase the risk of multiple system atrophy, a progressive brain disorder that affects movement and ... they influence the risk of developing multiple system atrophy. Variations in the SNCA gene appear to affect ...
- ... gene have been found to cause spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition is characterized by muscle weakness and wasting (atrophy) in the lower limbs that often begins in ...