PEDIATRICS Vol. 44 No. 6 December 1969, pp. 945-958
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Huttenlocher, P. R.
Right arrow Articles by Bensch, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Huttenlocher, P. R.
Right arrow Articles by Bensch, K.

OSTEO-CHONDRO-MUSCULAR DYSTROPHY

A Disorder Manifested by Multiple Skeletal Deformities, Myotonia, and Dystrophic Changes in Muscle

Peter R. Huttenlocher M.D.1, Julius Landwirth M.D.1, Virgil Hanson M.D.1, Brian B. Gallagher M.D.1, and Klaus Bensch M.D.1

1 Departments of Pediatrics and Pathology and the Division of Neurology, Yale University School of Medicine, The Yale-New Haven Hospital, New Haven, Connecticut, and the Department of Pediatrics, University of Southern California School of Medicine, Los Angeles

Three cases of a disorder of bone and of skeletal muscle are reported. Clinical manifestations of this disease begin in infancy with slowly progressive bony deformities, including coxa vara or valga, pectus carinatum, vertebral flattening, dwarfism, and basilar invagination. In addition, there is a mild dystrophic process in muscle, with muscular hypertrophy followed by atrophy, and with prominent myotonia. The descriptive label of osteo-chondro-muscular dystrophy is suggested, since this covers both the skeletal and the neuromuscular aspects of the disease. Present evidence favors a recessive mode of inheritance. Muscle biopsy studies, including electronmicroscopy and determination of muscle electrolytes, suggest a disorder of muscle membranes, with inability to maintain normal gradients of sodium and potassium. An abnormally low potassium concentration in muscle was noted already in a 6-month-old infant with this disease, at a time when dystrophic changes were minimal. Procaine amide therapy was effective in improving muscle function in the two children in whom it was tried.

Submitted on March 3, 1969
Accepted on August 12, 1969




This article has been cited by other articles:


Home page
 J Child NeurolHome page
B. Singh, N. Biary, A. A. Jamil, and S. Ali Al-Shahwan
Schwartz-Jampel Syndrome: Evidence of Central Nervous System Dysfunction
J Child Neurol, April 1, 1997; 12(3): 214 - 217.
[Abstract] [PDF]