Article |

Severe Congenital Muscular Dystrophy

H. Zellweger, MD; A. Afifi, MD; William F. McCormick, MD; W. Mergner, MD
Am J Dis Child. 1967;114(6):591-602. doi:10.1001/archpedi.1967.02090270047003.
Text Size: A A A
Published online

THE history of amyotonia congenita exemplifies impressively how diagnostic inaccuracy hinders scientific progress. Lack of appropriate laboratory tests, clinical follow-ups, and pathological documentation confused the semantics of neonatal and infantile hypotonia for decades. Although postmortem examinations showed that congenital hypotonia was due to degeneration of anterior horn cells in some cases and to primary disease of the muscle fiber in others, proper diagnosis became possible only after biochemical tests, electromyography, and muscle biopsy were utilized. Using these diagnostic tools, it became apparent that amyotonia congenita is a syndrome produced by a host of pathological conditions, some of which are primary muscle diseases.

Batten,1 as long ago as 1903, suspected on purely clinical grounds that a congenital primary muscular condition was responsible for amyotonia congenita. Although the nature of the disease in his cases was never confirmed by histological examinations, he is credited with the concept of congenital myopathy. Subsequent


Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
First page PDF preview





Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.