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Clinical and Laboratory Findings in Five Families and a Review of the Literature

Gordon V. Watters, MD, FRCP; Trevor W. Williams, MB

Arch Neurol. 1967;17(2):137-152.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

MYOTONIC dystrophy has been well described in the adult. It is inherited as an autosomal dominant and is characterized by myotonia, muscle wasting, and often by ptosis and cataract.¹ Involvement of other organs such as the lungs, heart, gastrointestinal tract, endocrine glands, and brain has been reported.^2-6 The onset of the disease usually occurs in the second or third decade in contrast to the earlier onset in myotonia congenita (Thomsen's disease).⁷

Early onset of myotonic dystrophy was first emphasized by Vanier in 1960.⁸ He reported six children in whom the disease manifested in infancy as congenital hypotonia and facial diplegia. Parker subsequently⁹ described a family in which eight members had evidence of the disease in childhood, two with congenital facial diplegia. Dodge et al⁵ in 1965 reported their findings in seven other children who presented with a variety of clinical features. They . . . [Full Text PDF of this Article]

Author Affiliations
Winnipeg, Canada

From the Department of Pediatrics, University of Manitoba, and the Children's Hospital, Winnipeg, Canada. Dr. Williams is a holder of a fellowship from the Canadian Pediatric Society Mead Johnson Educational Fund.

Footnotes
Submitted for publication Feb 1, 1967; accepted March 25.

Reprint requests to Department of Neurology, Children's Hospital Medical Center, Boston 02115 (Dr. Watters).

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