Progressive myotonia in foals resembling human dystrophia myotonica
| Autor: | Mary Rose Paradis, Christopher M. Brown, Stephen M. Reed, Gerald A. Hegreberg, Roger M. Clemmons, Warwick M. Bayly |
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| Rok vydání: | 1988 |
| Předmět: |
Male
Pathology medicine.medical_specialty Physiology Electromyography Myotonic dystrophy Myotonia Muscle hypertrophy Cellular and Molecular Neuroscience Atrophy Physiology (medical) medicine Animals Humans Myotonic Dystrophy Horses medicine.diagnostic_test business.industry Muscles Skeletal muscle Anatomy Muscle stiffness medicine.disease Electrophysiology medicine.anatomical_structure Animals Newborn Proximal Muscle Female Horse Diseases Neurology (clinical) business |
| Zdroj: | Muscle & Nerve. 11:291-296 |
| ISSN: | 1097-4598 0148-639X |
| DOI: | 10.1002/mus.880110403 |
| Popis: | A severe and progressive neuromuscular disorder accompanied by clinical, electrophysiological, and pathological features resembling human dystrophia myotonica was observed in three foals. This disorder was apparent as early as 1 month of age and involved progressive skeletal muscle dysfunction, initially characterized by proximal muscle hypertrophy and hypertonicity with subsequent muscle stiffness, weakness, and atrophy. Multisystem involvement was manifested in one case by testicular hypoplasia, early cataract formation, and borderline glucose intolerance. Prolonged dimpling of these large rear-limb muscles was elicited by percussion. Myotonic discharges were identified by electromyography. Percussion dimpling and the typical myotonic discharges persisted after neuromuscular blockade. Distinctive histologic muscle changes included ring fibers, sarcoplasmic mass formation, variation in fiber diameter size, and internally positioned nuclei. |
| Databáze: | OpenAIRE |
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