Schwartz-Jampel Syndrome

Taylor, Layzer, Davis and Fowler, Jr., Electroencephalography and Clinical Neurophysiology (1972),3007 reported on three patients with Schwartz-Jampel syndrome, a rare autosomal recessive disease consisting of generalized myotonia and bone abnormalities, including dwarfism. PHT improved muscle contractions in two of the patients.

3007. Taylor, R. G., Layzer, B. B., Davis, H. S., Fowler, W. M., Continuous muscle fiber activity in the Schwartz-Jampel syndrome, Electroencephalogr. Clin. Neurophysiol., 33: 497509,1972.

Brown, Garcia-Mullen and Murai, Neurology (1975), 2362 reported two patients with myotonic chondrodystrophy (Schwartz-Jampel syndrome) which had progressed to marked limitation of joint mobility in adulthood. PHT resulted in such improvement in ambulation that both patients were able to return to gainful employment.

2362. Brown, S. B., Garcia-Mullin, R., Murai, Y., The Schwartz-Jampel syndrome (myotonic chondrodystrophy) in the adult, Neurology, 4 (25): 366, 1975.

Cruz Martinez, Arpa, Perez Conde and Ferrer, Muscle and Neve (1984), 2418 reported a seven-year-old girl with Schwartz-Jampel syndrome. EMG showed persistent continuous electrical activity and high frequency discharges. Treatment with PHT, 200 mg/day, resulted in improvement in muscle relaxation and motor ability, including gait.

2418. Cruz Martinez, A., Arpa, J., Perez Conde, M. C., Ferrer, M. T., Bilateral carpal tunnel in childhood associated with Schwartz-Jampel syndrome, Muscle Nerve, 7: 66-72, 1984.