background participants

Participant 207

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 47, with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy).

Date of Report

Oct 18, 2022


The participant first noticed muscle weakness in his left calf at 42 years old. After 8 months, the participant had difficulty with both legs going up stairs. This progressed to involve weakness in the arms and legs and trouble getting up from a chair.

The participant had an MRI of the lumbar spine which showed extensive wasting of the muscles surrounding the spine (paraspinal musculature). Additionally, EMG imaging showed signs consistent with muscle disease (myopathy). A muscle biopsy of the left bicep showed advanced stage muscle weakness and wasting (muscular dystrophy with numerous lobulated fibers).

The participant also has obstructive sleep apnea and uses an auto CPAP machine at night. He also uses an ankle foot orthotic and a cane for balance.

The participant’s father had a diagnosis of limb-girdle muscular dystrophy which first caused hip and shoulder girdle weakness, with severe muscle loss in the left arm and leg. This slowly progressed over approximately 25 years and impacted his walking ability until he was no longer able to walk.

Symptoms / Signs
  • Abnormal shape of muscle fiber (abnormal morphology)
  • Elevated triglyceride levels (Hypertriglyceridemia)
  • Mildly elevated marker of muscle breakdown (creatine kinase)
  • Progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy)
Current Treatments
  • Ankle foot orthotic
  • Auto CPAP machine
  • Cane
Prior Treatments
Considered treatments
Previously Considered Diagnoses
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page
Autosomal recessive
Autosomal dominant/autosomal recessive

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


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.