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Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

Published online by Cambridge University Press:  18 September 2015

A.G. Lacson ,
S.S. Seshia ,
H.B. Sarnat ,
J. Anderson ,
W.R. DeGroot ,
A. Chudley ,
C. Adams ,
H.Z. Darwish ,
R.B. Lowry  and
S. Kuhn
...Show all authors
A.G. Lacson*
Affiliation:
Department of Pathology
S.S. Seshia
Affiliation:
Department of Pediatrics and Child Health
H.B. Sarnat
Affiliation:
University of Manitoba; the Departments of Pathology
J. Anderson
Affiliation:
Department of Anatomy
W.R. DeGroot
Affiliation:
Department of Pediatrics and Child Health
A. Chudley
Affiliation:
Department of Pediatrics and Child Health
C. Adams
Affiliation:
Department of Pediatrics and Child Health
H.Z. Darwish
Affiliation:
Pediatrics and Clinical Neurosciences
R.B. Lowry
Affiliation:
Medical Genetics
S. Kuhn
Affiliation:
University of Calgary the Departments of Pediatrics
N.J. Lowry
Affiliation:
University of Alberta; the Departments of Pediatrics and Neurology
L.C. Ang
Affiliation:
Department of Pathology
E. Gibbings
Affiliation:
University of Saskatchewan; and Regina General Hospital
C.L. Trevenen
Affiliation:
University of Manitoba; the Departments of Pathology
E.S. Johnson
Affiliation:
Department of Pathology
J. Hoogstraten
Affiliation:
Department of Pathology
*
Department of Pathology and Laboratory Medicine, All Children’s Hospital, 801 Sixth Street South, St. Petersburg, Florida USA 33731
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Abstract:

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We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 21 , Issue 3 , August 1994 , pp. 203 - 212
Copyright
Copyright © Canadian Neurological Sciences Federation 1994

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