A congenital muscular disorder in which the affected children shortly after birth develop kyphoscoliosis, drooping of the head, contractures of large joints and limpness of small joints, and contractures and hardening of the muscles of the neck and trunk. Motor development is always delayed and most patients are not able to walk. The immobility of the proximal joints and excessive mobility of the distal joints permit children to assume bizarre postures. A common feature is hyperhidrosis, giving the patients a hard time in hot weather.
The syndrome is believed to be a variant of Oppenheim's disease. In contrast to Oppenheim's disease, there is excessive excitability of the nervous system. Examination of the muscles shows sclerotic and dystrophic changes. Intelligence is normal.
See also Oppenheim's disease, under Hermann Oppenheim, German neurologist, 1858-1919.
- O. Ulrich:
Congenital, atonisch-sklerotische Muskeldystrophie.
Monatsschrift Kinderheilkunde, Berlin, 1930, 47: 502-510.