A new syndrome of congenital skeletal abnormalities has been found in the Alaskan Eskimo. The condition is characterized by multiple joint contractures predominantly affecting the knees and ankles, with atrophy or compensatory hypertrophy of associated muscle groups. Intellectual functioning is not impaired, and, aside from the skeletal system and possibly the skin, there are no other consistent physical anomalies. General laboratory studies disclosed no abnormality, extensive electromyographic investigation showed no basic defect of the motor unit, and results of muscle biopsies were normal. Treatment to date has been entirely orthopedic, with use of surgery, casting and bracing, and passive manipulation. This condition can be separated from the heterogeneous category of arthrogryposis multiplex congenita by its distinctive clinical features and by the familial pattern of distribution, which suggests an autosomal recessive mode of inheritance.
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 2671.