Lecture Notes

Schwartz–Jampel Syndrome (SJS) is a rare autosomal recessive disorder characterized by a combination of musculoskeletal abnormalities and continuous muscle contractions.

Clinical Features:

1. Musculoskeletal Features:

   • Chondrodysplasia: Abnormal cartilage development leads to short stature and joint contractures.
   • Facial Features:
     • Blepharophimosis: Narrowing of the eye openings.
     • Pursing of the mouth and puckering of the chin due to persistent muscle contraction.
   • Stiffness: Muscle stiffness affecting the limbs, often worsened with cold or exertion.

2. Muscle Abnormalities:

   • Continuous muscle contraction, even at rest, contributes to stiffness and abnormal posture.
   • Despite the muscle contraction, serum creatine kinase (CK) levels are normal or mildly elevated.

3. Electromyography (EMG):

   • Abnormal, continuous muscle fiber activity is seen, even in the absence of voluntary movement.

4. Histological Findings:

   • Muscle biopsy typically appears normal or shows nonspecific changes.

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