Total 9 clinical symptoms reported for Oculopharyngeal muscular dystrophy
Abnormal muscle fiber morphology |
Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
Synonyms:Abnormal skeletal muscle fiber morphology; Abnormality of muscle fibers |
Very frequent |
Abnormality of the pharynx |
An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
|
Very frequent |
Myopathy |
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Synonyms:Muscle tissue disease; Myopathic changes |
Very frequent |
Ophthalmoplegia |
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Synonyms:Eye muscle paralysis; Paralysis of extraocular eye movement |
Very frequent |
Ptosis |
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Synonyms:Blepharoptosis; Drooping upper eyelid; Eyelid ptosis |
Very frequent |
Ragged-red muscle fibers |
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
Synonyms:Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers |
Very frequent |
Rimmed vacuoles |
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Synonyms:'rimmed vacuoles' on biopsy; 'rimmed' vacuoles on biopsy |
Very frequent |
Spondylolisthesis |
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
Synonyms:Displacement of one backbone compared to another; Slipped backbone; Spondylolithesis |
Very frequent |