Total 24 clinical symptoms reported for GNE myopathy
Fatty replacement of skeletal muscle |
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Synonyms:Skeletal muscle fatty infiltration |
Very frequent |
Foot dorsiflexor weakness |
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Synonyms:Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels |
Very frequent |
Lower limb muscle weakness |
Weakness of the muscles of the legs.
Synonyms:Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs |
Very frequent |
Muscle fiber inclusion bodies |
This information is currently in development.
|
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 |
Tibialis muscle weakness |
Muscle weakness affecting the tibialis anterior muscle.
|
Very frequent |