Clinical examination and MRI are often the first steps in an<unk>  diagnosis. MRI can be indicative of<unk>  but is not adequate as a confirming test. An ARSA-A enzyme level blood test with a confirming urinary sulfatide test is the best biochemical test for<unk> . The confirming urinary sulfatide is important to distinguish between<unk>  and pseudo-MLD blood results. Genomic sequencing may also confirm<unk> , however, there are likely more mutations than the over 200 already known to cause<unk>  that are not yet ascribed to<unk>  that cause<unk>  so in those cases a biochemical test is still warranted. Newborn screening<unk>  Foundation formally launched a newborn screening initiative in late 2017. The screen development started in the early 2010s at the University of Washington Gelb Biochemistry lab. A deidentified pilot study launched in April 2016 in Washington state. Positive results led to<unk>  being included in the ScreenPlus identified baby research project in New York state, which is currently scheduled to launch in Q1'2021.
Metachromatic leukodystrophy
Multiple system atrophy
Leukodystrophy
Benign hereditary chorea
Stratton Parker syndrome
Spinocerebellar ataxia type 6
Infantile neuroaxonal dystrophy
Progressive supranuclear palsy