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Can J Neurol Sci ; 21(3): 203-12, 1994 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8000975

RESUMEN

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.


Asunto(s)
Indígenas Norteamericanos , Distrofias Musculares/genética , Canadá , Electromiografía , Electroforesis en Gel de Poliacrilamida , Resultado Fatal , Femenino , Genes Recesivos , Humanos , Lactante , Recién Nacido , Masculino , Microscopía Electrónica , Proteínas Musculares/análisis , Proteínas Musculares/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Distrofias Musculares/etnología , Distrofias Musculares/mortalidad , Proteínas del Tejido Nervioso/metabolismo , Linaje
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