myotoni
Myotonia is a neuromuscular condition characterized by delayed relaxation of skeletal muscles after voluntary contraction. It is a feature commonly associated with various inherited disorders called myotonias, which involve mutations affecting muscle ion channels, particularly chloride or sodium channels. The hallmark of myotonia is muscle stiffness or prolonged contraction experienced after activity, often described as a "locking" sensation in affected muscles.
Myotonia can be classified as either primary or secondary. Primary myotonia is inherited and typically follows
Symptoms generally include muscle stiffness, difficulty relaxing muscles after movement, muscle hypertrophy, and percussion myotonia (muscle
Diagnosis involves clinical evaluation, electromyography (EMG), and genetic testing. EMG typically reveals myotonic discharges—characteristic waxing and
Although myotonia can significantly impact quality of life, it is generally a non-progressive condition. Advances in