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Familial Adult-Onset Proximal Spinal Muscular AtrophyReport of a Family With Type II Hyperlipoproteinemia
Steven H. Quarfordt, MD;
Darryl C. DeVivo, MD;
W. King Engel, MD;
Robert I. Levy, MD;
Donald S. Fredrickson, MD
Arch Neurol. 1970;22(6):541-549.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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DURING the investigations of a family with type II hyperlipoproteinemia (familial hyperbetalipoproteinemia),1 it was noted that the four older affected male members also had a slowly progressive neuromuscular disorder which had developed in early adulthood. The major clinical features included fasciculations of face, tongue, trunk, and limb muscles, excessive cramping of involved muscles with moderate exertion, muscle weakness predominantly proximal in the arms and legs with associated atrophy and reduction of deep tendon reflexes, and mild elevation in cerebrospinal fluid (CSF) protein content. Electromyographs, nerve conduction studies, and muscle biopsy in each case confirmed the neuropathic basis of the disease. The entire accessible family was subsequently evaluated for both the serum lipoprotein abnormality and the neurological disorder.
Materials and Methods
The propositus, a 47-year-old man, and his four siblings, a 50-year-old man, a 46-year-old man, a 43-year-old woman, and a 37-year-old man, were admitted to the Clinical Center
. . . [Full Text PDF of this Article]
Author Affiliations
Bethesda, Md
From the Molecular Disease Branch, National Heart Institute (Drs. Quarfordt, Levy, and Fredrickson), and Medical Neurology Branch, National Institute of Neurological Diseases and Stroke (Drs. DeVivo and Engel), Bethesda, Md.
Footnotes
Submitted for publication July 25, 1969; accepted Nov 17.
Reprint requests to National Heart Institute, Bldg 10, Room 7N220, Bethesda, Md 20014 (Dr. Levy).
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