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What is Kugelberg Welander syndrome
- Rare hereditary neuromuscular disorder that usually manifests during the first and second decades of life
- Some clinical manifestations are similar to Tay-Sachs, such as wasting and weakness of arm and leg muscles
- Distinguishing clinical feature of Kugelberg-Welander syndrome is scoliosis; hexosaminidase levels are within reference range
- Distinguish by molecular testing identifying a mutation in SMN gene
Synonyms of Kugelberg Welander Syndrome
- KWS
- SMA3
- 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.
