Jan 17, 2023
New Gene (PSAT1) Linked to Treatable CMT-like Outcomes
Two new and treatable cases of peripheral neuropathy reported in children raise more questions about the definition and diagnosis of CMT types.
Steve Bryson at CMT News has a nice breakdown of new findings in China that some variants (mutations) in the PSAT1 gene [NIH, GeneCards] can result the cluster of symptoms commonly associated with the CMT family of polyneuropathy/neuromuscular diseases. There are several unusual and interesting features of these two pediatric CMT cases where mobility was seriously impaired in the feet and legs —…
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