Schwartz-Jampel Syndrome Treatment & Management

Updated: Jun 07, 2017
  • Author: Eli S Neiman, DO, FACN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Treatment

Approach Considerations

The treatment of Schwartz-Jampel syndrome (SJS) aims to reduce the abnormal muscle activity that causes stiffness and cramping. Treatment may include nonpharmacologic modalities, medication (including botulinum toxin [BOTOX®]), or surgery. No controlled trials have investigated the efficacy of these treatments, but case reports have demonstrated treatment success with BOTOX® and surgery.

Nonpharmacologic modalities and strategies such as massage, warming, gradual warm-up prior to exercise, and gradual stretching may obviate the need for medications.

Surgical treatment

If the administration of BOTOX® does not work for cases of blepharospasm, ptosis, and other difficulties maintaining a sufficiently wide-open eye, a variety of surgical techniques have been used effectively, including orbicularis oculi myectomy, levator aponeurosis resection, and lateral canthopexy. [14] (The tendency for malignant hyperthermia to occur in SJS could lead to adverse outcomes in surgery.) [15, 16, 17]

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Pharmacologic Therapy

Medications that have been found useful in myotonic disorders, such as anticonvulsants (eg, phenytoin, carbamazepine) and antiarrhythmics (eg, mexiletine, procainamide, quinidine, quinine), may be tried in SJS. None of the medications mentioned are approved specifically for this disease, with the exception that "skeletal muscle hyperactivity" is listed as part of the category information for quinine.

Administering these drugs via any route other than oral is not advisable when they are used to treat muscle stiffness associated with SJS or similar conditions. The patient should be monitored carefully for possible development of the listed adverse effects. Moreover, patients who are to receive antiarrhythmics or quinine should have no significant cardiac conduction abnormality or tendency toward any conduction abnormality. Consultation with a cardiologist should be strongly considered when prescribing these medications.

Botulinum toxin

BOTOX® injections reportedly yielded good results for relieving blepharospasm in 2 sisters with SJS. [18] The authors proceeded slowly and carefully, individualizing the treatment to the needs of the patients. They initially administered a total of 25U in the orbicularis oculi of each eye. This provided no significant relief. After waiting 6 months, they doubled the dose, and this began to provide relief. After waiting another 6 months, they again administered 50U to the orbicularis oculi of each eye and the patient obtained significant cosmetic and functional improvement.

Because ptosis can also be a problem in SJS patients and because BOTOX® can produce ptosis, one must proceed very carefully. Interestingly, another report indicated that giving BOTOX® just to the lower eyelid muscles had the effect of widening the aperture of the eye in persons with this condition. [19]

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Surgical Care

Surgery may be an option for SJS patients to help treat and/or correct musculoskeletal abnormalities including joint contractures, kyphoscoliosis, and hip dysplasia. For some, surgery combined with physical therapy may help improve the ability to walk and perform other movements independently. Comprehensive dental treatment is also often required as well. [20]  

Use of general anesthesia in patients with SJS may be dangerous for risk of malignant hyperthermia exists. [20]

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