background participants

Participant 204

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)

Date of Report

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.

Symptoms / Signs
  • Elevated creatinine kinase levels
  • Breakdown of muscle tissue (rhabdomyolysis)
  • Abnormal coloration of urine (pigmenturia)
  • Damage to nervous system (sensory neuropathy, motor axonal neuropathy)
  • Elevated creatinine kinase levels
  • Progressive lower extremity weakness
  • Difficulties walking (steppage gait)
  • Loss of muscle (peroneal muscle atrophy)
Current Treatments
  • Aspirin
  • Atorvastatin
  • Hydrochlorothiazide
  • Lisinopril
  • Metformin
  • Metoprolol
Prior Treatments
  • Ankle foot orthotic
Considered treatments
Previously Considered Diagnoses
  • Axonal neuropathy
  • Charcot-Marie-Tooth disease type 2
  • Spinal muscular atrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive

If this participant sounds like you or someone you know, please contact us!


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