A recent study highlights a case of late-onset Tay-Sachs disease exhibiting a muscle MRI pattern similar to spinal muscular atrophy, despite differing clinical symptoms. This research may enhance understanding of the disease's phenotypic variability.
late onset tay sachs disease with smaled like muscle mri pattern despite a distinct clinical phenotype
Original title: “Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.”