SORD is a gene that has received a lot of attention lately…
International research on SORD has increased greatly since the discovery in 2020 that its mutation causes the most common autosomal recessive form of CMT2 and the overlapping category of distal hereditary motor neuropathy (dHMN). CMT2 and dHMN are under-diagnosed rare disease categories, and up to nearly 10% of the cases that fall within them may be SORD-related.
The onset of symptoms occurs around age 17 on average, but symptoms may present themselves in the first years of life or as late as one’s forties. The symptoms common to all cases are muscle weakness and wasting in the arms and/or legs. Leg muscles are affected in 98% of known cases. Other symptoms include:
- Limb weakness
- Foot deformities
- Sensory impairment
- Difficulty walking
If you have a confirmed SORD deficiency diagnosis, or a diagnosis of CMT2 that has not been confirmed by genetic testing, please email [email protected] for further details.