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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

Description

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:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
CAMTA1
see gene page
see gene page
see gene page
see gene page
see gene page
DYSF
Autosomal recessive
chr2:g.71738937G>A
NM_003494.3
c.343G>A
p.Ala115Thr
FBXO8
Unknown
chr4:g.175180959dup
NM_012180.2
c.350dupG
p.His118SerfsTer7
RYR1
Autosomal dominant/autosomal recessive
chr19:g.38989881A>G
NM_000540.2
c.7025A>G
p.Asn2342Ser
Contact

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

Disclaimer

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