Kugelberg Welander Syndrome (KWS)

Kugelberg Welander Syndrome (KWS) is a genetic disorder caused by survival motor neuron gene (SMN) mutations in the 5th chromosome. The symptoms include weak limb muscles, walking difficulties, muscle wasting, scoliosis, and difficulties in rising from lying on one’s back. During the severe stages, patients may present with loss of ambulation as the legs become more severely affected and breathing difficulties. The symptoms’ onset is generally from 18 months to three years.

This syndrome was first described by Kugelberg and Welander in 1956 when they observed patients who had prolonged ambulation. KWS is the mildest form of spinal muscular atrophies (SMAs) which was first described by Guido Werdnig, a University of Vienna physician, in the 1890s.