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Autosomal Recessive

Associated Gene






SORD1-CMT is caused by autosomal recessive mutations in the SORD1 gene. This type of CMT, that is, the underlying gene mutation that causes this type of CMT, was identified extremely recently, in 2020. There is only the one published paper by Zuchner, Scherer et al., (2020) identifying the associated mutation in the SORD1 gene that causes this type of CMT.

The paper’s authors suggest that this particular mutation in the SORD1 gene could be the most common cause of autosomal recessive axonal CMT, and they estimate that there could be approximately 60,000 CMTers whose CMT is caused by this mutation. Of note, other mutations in SORD1 are associated with another condition, and that condition is treatable by managing what the mutation in the gene does. Paper authors suggest that SORD1-CMT might be treatable in this same manner.

This type of CMT does not have a [number] [letter] name as the other types of CMT do. It is only referred to as SORD1-CMT at present time. This could very well change in the near future.

The Charcot-Marie-Tooth Association has an active program that is seeking CMTers whose CMT has no genetic confirmation and who are interested in being screened for this newly identified CMT causing mutation in the SORD1 gene. For more information on SORD1-CMT and to learn more about the CMTA’s program, click the CMTA button below.

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