Sep 06, 2022
The participant experiences progressive weakness in his lower limbs. Early in his disease course, he was suspected to have spinal muscular atrophy and Charcot-Marie-Tooth disease type 2. Genetic testing later ruled out these diagnoses. An electromyogram (EMG) showed evidence of nerve damage (axonal neuropathy).
In his more active years, the participant enjoyed exercising. However, after exercise, the participant would experience pain in his muscles as a result of the breakdown of muscle tissue (rhabdomyolysis) and discoloration of urine (pigmenturia).
Currently, the participant uses a cane to help with movement and to prevent falls. He has an abnormal gait due to weakness (steppage gait). He has experienced numerous of falls throughout his life. Previously the participant wore an ankle foot orthotic, but has stopped wearing it due to pain. His upper body is only mildly affected by the disease.
In 2022, the participant was diagnosed with a condition called sorbitol dehydrogenase deficiency with peripheral neuropathy.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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