Kugelberg Welander syndrome – 4 Interesting Facts

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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