Autosomal dominant muscular dystrophy. The clinical picture is characterized by early contractures through muscular shortening, beginning in the first or second decade, and atrophy, mainly affecting the humeral and peroneal muscles, and cardiomyopathy. Hauptmann and Thannhauser reported the disorder in a family of French-Canadian descent in which 9 persons in 3 generations were affected by a form of muscular dystrophy manifested by inability to flex the neck and slight webbing due to shortened muscle as well as limitation on spinal flexion and elbow extension from the same cause. The limb-girdle muscles were underdeveloped and weak. The condition was apparently not progressive.
Both Hauptmann and Thannhäuser were immigrant in Boston when they described the syndrome.
- A. Hauptmann, S. J. Tannhauser:
Muscular shortening and dystrophy: a heredofamilial disease.
Archives of Neurology and Psychiatry, Chicago, 1941, 46: 654.