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| metachromatic_leukodystrophy [2019/06/17 01:19] – [Eye Features] Scott Larson | metachromatic_leukodystrophy [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
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| * Juvenile - onset age 4- sexual maturity (20-30%) | * Juvenile - onset age 4- sexual maturity (20-30%) | ||
| * Adult- > age 16 | * Adult- > age 16 | ||
| - | + | ==== Common Features ==== | |
| - | ===== Common Features | + | |
| * Motor dysfunction | * Motor dysfunction | ||
| * difficulty walking | * difficulty walking | ||
| Line 20: | Line 19: | ||
| * Progressive dementia | * Progressive dementia | ||
| * May be preceded by personality changes or mild cognitive dysfunction | * May be preceded by personality changes or mild cognitive dysfunction | ||
| - | + | ==== Eye Features ==== | |
| - | ===== Eye Features | + | |
| * Optic Atrophy | * Optic Atrophy | ||
| * [[cherry_red_spot|Cherry-red Spot]] in macula | * [[cherry_red_spot|Cherry-red Spot]] in macula | ||
| - | + | ==== Diagnosis ==== | |
| - | ===== Diagnosis | + | |
| * Serum ARSA enzyme level confirmed by elevated urine sulfatide | * Serum ARSA enzyme level confirmed by elevated urine sulfatide | ||
| * MRI Brain | * MRI Brain | ||
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| * over 200 mutations known and many mutations may not be pathologic | * over 200 mutations known and many mutations may not be pathologic | ||
| * Nerve/brain biopsy | * Nerve/brain biopsy | ||
| - | + | ==== Treatment ==== | |
| - | ===== Treatment | + | |
| * Bone Marrow Transplant | * Bone Marrow Transplant | ||
| * Clinical Trials | * Clinical Trials | ||
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| * intracerebral vector delivered genes | * intracerebral vector delivered genes | ||
| * Intrathecal enzyme replacement therapy | * Intrathecal enzyme replacement therapy | ||
| - | + | ==== Reference | |
| - | ===== Online Resources ===== | + | |
| * [[https:// | * [[https:// | ||
| * [[https:// | * [[https:// | ||
| {{tag> | {{tag> | ||