Myasthenic syndrome- congenital- associated with acetylcholine receptor deficiency
Overview
A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
Symptoms
* Long face * Protruding jaw * Facial muscle weakness * Droopy eyelids * Weak eye muscles * Strabismus * Malocclusion * High-arched palate * Weak tongue muscle * Respiratory insufficiency due to muscle weakness * Dysphagia * Poor feeding * Arhtrogryposis multiplex * Underdeveloped muscles * Weak facial muscles * Generalized muscle weakness * Delayed motor development * Hypotonia * Gowers sign * Dysarthria * Easily fatigued * Muscle cramps * Reduced fetal movements * Weak cry * Apneic episodes
Diagnosis
* Cold & Flu: Testing: - Fever Tests - Ear Infection Tests - Flu Tests
Treatment
* Anticholinesterase therapy can improve symptoms in most cases