Hyperexplexia
Hyperexplexia Causes
The disease is said to be caused by mutations in a gene found in chromosome 5. The defective gene is inherited, occurring through dominant autosomal transmission. The mutations leads to the symptoms of the syndrome.
Hyperexplexia Definition
Hyperexplexia is an uncommon inherited disorder in which infants show a heightened startle reflex or reaction. The onset of the disease is soon after birth, and is characterized by rigidity or stiffness and supposition of flexed fetal placement. This startle reflex is sometimes joined by ?acute generalized hypertonia' that causes an individual to suddenly fall like a stiff log onto the ground. Other names for this disease include ?startle disease', Kok disease, and stiff baby syndrome.
Hyperexplexia Diagnosis
Diagnosis is generally clinical, however physical examination and history also help in confirming diagnosis. EMG may be used for monitoring therapy response and progress.
Hyperexplexia Symptoms and Signs
Manifestations of the disorder include hypertonia or stiffness, strong brain-stern reactions, exaggerated startle reaction, and even epilepsy in some cases. The stiffness is evident with limb flexion that disappears during sleep and diminishing over time. Startle reflex may sometimes come with sudden stiffness.
Hyperexplexia Treatment
Treatment is mainly with administration of medications. The syndrome's neurological characteristics may usually be managed with clonazepam drug. In a number of cases, diazepam, valproic acid, and Phenobarbital have been found helpful.