J Korean Pediatr Soc.  1980 Jan;23(1):74-79.

A Case of Kugelberg-Welander Disease

• Han HS
• Shim K
• Kang YS
• Yoon YS
• Kim YK
• Chi JG

Abstract

A case of Kugelberg-Welander Disease, a rare neuromuscular disease in childhood, in a 28 month old Korean male is presented. This patient was fairly good until 24 months of age, when she was found to have waddling gait, weakness of both lower extremities along with tremor of hands. At the time of admission he showed obvious proximal muscle weakness, more proximal groups and showed Gower's sign. Deep tendon reflexes were abolished. Electromyogrtaphy showed patterns compatable with anterior horn cell disease. And Vastus muscle biopsy showed small round fibers without definite grouping. No degeneration or inflammation was present. Maternal cousin of this patient was known to have muscle disease probably related to this disease.

MeSH Terms

Biopsy
Child, Preschool
Gait
Hand
Humans
Inflammation
Lower Extremity
Male
Motor Neuron Disease
Muscle Weakness
Neuromuscular Diseases
Reflex, Stretch
Spinal Muscular Atrophies of Childhood*
Tremor