Schwartz Jampel Syndrome (SJS), also known as chondrodystrophic myotonia or myotonic myopathy, is a rare genetic disorder characterized by permanent muscle stiffness, skeletal abnormalities, and various other distinct features.
Individuals with Schwartz Jampel Syndrome typically exhibit symptoms from birth or early childhood. The muscle stiffness, known as myotonia, affects the voluntary muscles and can cause pain, rigidity, and difficulty with movements such as walking, climbing stairs, or even facial expressions. This myotonia can also lead to joint contractures, such as permanently bent fingers and elbows, which limit range of motion.
In addition to muscular and skeletal symptoms, individuals with SJS may also have a broad range of associated features. These may include short stature, joint deformities, scoliosis, facial abnormalities like a small and narrow face, ptosis (drooping eyelids), and a high-arched palate. Some may experience vision or hearing impairment, respiratory difficulties, or cardiac abnormalities.
Schwartz Jampel Syndrome is caused by mutations in the gene perlecan (HSPG2), which is involved in the production of a protein called perlecan, essential for the development and maintenance of various tissues and organs. This autosomal recessive disorder means that both copies of the gene must be affected for the syndrome to be present.
While there is currently no cure for Schwartz Jampel Syndrome, management aims to alleviate symptoms and improve quality of life. Physical therapy and exercise can help maintain muscle strength and flexibility, while orthopedic interventions like braces or surgeries may be necessary to address skeletal abnormalities and joint contractures. Other therapies may be provided to manage associated symptoms such as pain, vision or hearing difficulties.
