Schwartz–Jampel syndrome

Autosomal recessive - en

Schwartz–Jampel syndrome (SJS), also known as chondrodystrophic myotonia, is a rare genetic disorder characterized by myotonia, skeletal abnormalities, and growth retardation. It was first described by Dr. Oscar Schwartz and Dr. Robert Jampel in 1962.

Signs and Symptoms

Individuals with Schwartz–Jampel syndrome typically present with:

• Myotonia: Prolonged muscle contractions leading to stiffness.
• Skeletal abnormalities: Including short stature, joint contractures, and kyphoscoliosis.
• Facial features: A characteristic facial appearance with blepharophimosis, a small mouth, and a pursed-lip appearance.
• Growth retardation: Delayed growth and development.

Genetics

Schwartz–Jampel syndrome is inherited in an autosomal recessive manner. Mutations in the HSPG2 gene, which encodes the protein perlecan, are responsible for the condition. Perlecan is essential for the structural integrity of the extracellular matrix in various tissues.

Diagnosis

Diagnosis of Schwartz–Jampel syndrome is based on clinical evaluation, family history, and genetic testing. Electromyography (EMG) can be used to detect myotonia, and radiographic imaging can reveal skeletal abnormalities.

Treatment

There is no cure for Schwartz–Jampel syndrome, but treatment focuses on managing symptoms. This may include:

• Physical therapy: To improve mobility and reduce joint contractures.
• Medications: Such as muscle relaxants to alleviate myotonia.
• Orthopedic surgery: To correct severe skeletal deformities.

Prognosis

The prognosis for individuals with Schwartz–Jampel syndrome varies. While the condition is chronic, many individuals can lead relatively normal lives with appropriate management of symptoms.

Related Pages

• Myotonia
• Genetic disorder
• Autosomal recessive
• HSPG2
• Electromyography
• Physical therapy