Kugelberg Welander spinal muscular atrophy (SMA) is a rare, inherited, pediatric lower motor neuron disorder in which degenerating anterior horn cells of the spinal cord result in widespread muscle atrophy and weakness, hypotonia, and progressive paralysis. Affecting 1 in 15,000-20,000 children worldwide, symptoms of Kugelberg Welander SMA usually present in patients aged older than 18 months. The disease progression of Kugelberg Welander SMA is slow, but most patients will require a wheelchair by the time they reach early adulthood.
Although the exact etiology of Kugelberg Welander SMA is unclear, patients have an autosomal recessive gene mutation in survival motor neuron 1 (SMN1), a protein vital to motor neuron health. This mutation renders SMN1 nonfunctional, resulting in loss of anterior horn cells in the spinal cord. Degenerating and dying motor neurons result in gradual muscle weakness and paralysis.
Ongoing disease and genetic research continue to provide more understanding of this progressive neurologic disorder. How much do you know about Kugelberg Welander SMA? Test your knowledge with our short quiz.
Medscape © 2018 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Stephen L. Nelson. Fast Five Quiz: Can You Recognize Kugelberg Welander Spinal Muscular Atrophy? - Medscape - Dec 06, 2018.