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.

• 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)

• Ankle foot orthotic
• Auto CPAP machine
• Cane