Peer-reviewed veterinary case report
Progressive myotonia in foals resembling human dystrophia myotonica.
- Journal:
- Muscle & nerve
- Year:
- 1988
- Authors:
- Reed, S M et al.
- Affiliation:
- Department of Veterinary Clinical Medicine · United States
- Species:
- horse
Plain-English summary
Three young foals were found to have a serious and worsening muscle disorder that is similar to a condition seen in humans called dystrophia myotonica. This problem started when the foals were about one month old and led to issues with their muscles, starting with swelling and tightness, followed by weakness and shrinking of the muscles. In one foal, there were also other health problems, including underdeveloped testicles, early cataracts, and some trouble with blood sugar levels. Tests showed unusual muscle responses and specific changes in the muscle tissue. Unfortunately, the condition was severe and progressive, indicating that the treatment did not work effectively.
Abstract
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/3398875/