How to diagnose Schwartz Jampel syndrome type 1 ?
How is Schwartz Jampel syndrome type 1 diagnosed? The diagnosis of Schwartz Jampel syndrome type 1 (SJS1) is suspected based on clinical findings including characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing  SJS1 include: blood tests (which may show elevated serum creatine kinase or adolase); imaging studies; muscle biopsy; and electromyography (EMG)/nerve conduction studies. Genetic testing of the HSPG2 gene may additionally be helpful to confirm the diagnosis.