What are the treatments for Schwartz Jampel syndrome type 1 ?
How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes).  If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.