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

Stephen L. Nelson, Jr, MD, PhD

Disclosures

December 06, 2018

Diminished deep-tendon reflexes (except for ankle reflexes), proximal muscle weakness that is more pronounced at the pelvic girdle, and normal sensation are all physical examination findings associated with Kugelberg Welander SMA. Additionally, patients may demonstrate a waddling gait, positive Gower sign, and mild tremor when fingers are outstretched (minipolymyoclonus).

Muscle wasting of the calf muscle is unusual; however, muscle wasting of the hip abductors and hip extensor muscles is a typical finding in patients with Kugelberg Welander SMA. Unilateral and bilateral weakness and paresthesia in the upper and lower extremities are not associated with undiagnosed Kugelberg Welander SMA.

Read more about physical examination findings consistent with Kugelberg Welander SMA here.

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