We had the opportunity to observe a family of French-Canadian descent in which all the members for three generations showed a symptom complex to our knowledge not heretofore described in the literature. At first this disease seemed to be related to the Klippel-Feil syndrome, on the one hand, and to progressive muscular dystrophy, on the other. However, a more precise investigation revealed a familial disease of quite another character.
The members of the second generation showed the most characteristic picture of the disease and will be described first. Data on the first generation were obtained from descriptions given by other members of the family (fig. 1).
—A. P., a 37 year old man, was unable to bend his head forward normally, either actively or passively. The muscles at the back of the neck seemed too short and too tense to permit normal flexion. However, the flexor muscles themselves
HAUPTMANN A, THANNHAUSER SJ. MUSCULAR SHORTENING AND DYSTROPHYHEREDOFAMILIAL DISEASE. Arch NeurPsych. 1941;46(4):654-664. doi:10.1001/archneurpsyc.1941.02280220087006