Kugelberg Welander syndrome – 4 Interesting Facts

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What is Kugelberg Welander syndrome

  1. Rare hereditary neuromuscular disorder that usually manifests during the first and second decades of life 
  2. Some clinical manifestations are similar to Tay-Sachs, such as wasting and weakness of arm and leg muscles
  3. Distinguishing clinical feature of Kugelberg-Welander syndrome is scoliosis; hexosaminidase levels are within reference range
  4. Distinguish by molecular testing identifying a mutation in SMN gene

Synonyms of Kugelberg Welander Syndrome

  1. KWS
  2. SMA3
  3. spinal muscular atrophy type 3

Symptoms and Signs

  • The disease manifests after 12 months of age (usually between childhood and adolescence), after ambulation has been acquired.
  • muscle wasting, difficulty in walking or climbing stairs, and trouble rising from lying on one’s back.
  • Breathing may be affected, but very late in the course of disease.
  • Approximately 50% of patients with Kugelberg Welander syndrome develop spinal curvature (scoliosis).
  • Two subtypes (SMA3a and SMA3b) have been distinguished by some authors: SMA3a defines patients with onset before the age of 3 years, whereas SMA3b defines patients with onset after 3 years.
  • Difficulties walking, running, and going up and down stairs are common.
  • The muscle weakness predominantly affects the legs and hip muscles and then progresses to the shoulders and arms.
  • Legs are always more severely affected than arms.
  • Weak finger trembling and scoliosis are frequent and the patellar reflex is absent.

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