Fast Five Quiz: Can You Recognize Kugelberg Welander Spinal Muscular Atrophy?

Stephen L. Nelson, Jr, MD, PhD


December 06, 2018

The workup for Kugelberg Welander SMA includes genetic testing, muscle biopsy, and electromyography (EMG). Molecular genetic testing demonstrates SMN1 deletion of exon 7 in 95% to 98% of patients with Kugelberg Welander SMA. Results of muscle biopsy reveal skeletal muscle and neurogenic atrophy with chronic reinnervation. EMG abnormalities in the extremities are consistent with axonal degeneration associated with Kugelberg Welander SMA. In addition, patients may undergo nerve conduction studies to differentiate SMA (normal conduction studies) from amyotrophic lateral sclerosis.

MRI of the brain is not diagnostic for Kugelberg Welander SMA; referral to an infectious disease specialist is not necessary; and C-spine CT is not diagnostic for Kugelberg Welander SMA.

Read more about testing for Kugelberg Welander SMA here.


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