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Schwartz-Jampel Syndrome Treatment & Management

  • Author: Jennifer Ault, DO, DPT; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
 
Updated: Oct 09, 2014
 

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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Contributor Information and Disclosures
Author

Jennifer Ault, DO, DPT Resident Physician, Department of Neurology, Dartmouth-Hitchcock Medical Center

Jennifer Ault, DO, DPT is a member of the following medical societies: American Academy of Neurology, American Academy of Osteopathy, American Medical Association, American Physical Therapy Association

Disclosure: Nothing to disclose.

Coauthor(s)

Stephen A Berman, MD, PhD, MBA Professor of Neurology, University of Central Florida College of Medicine

Stephen A Berman, MD, PhD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Eric Dinnerstein, MD Consulting Staff Neurologist, Maine Medical Partners Neurology

Eric Dinnerstein, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Received grant/research funds from Janssen Pharmaceuticals for pi conpensation.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Founding Editor-in-Chief, eMedicine Neurology; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Association for Physician Leadership, American Academy of Neurology

Disclosure: Nothing to disclose.

Acknowledgements

Daniel H Jacobs, MD, FAAN Associate Professor of Neurology, University of Florida College of Medicine

Daniel H Jacobs, MD, FAAN is a member of the following medical societies: American Academy of Neurology, American Society of Neurorehabilitation, and Society for Neuroscience

Disclosure: Teva Pharmaceutical Grant/research funds Consulting; Biogen Idex Grant/research funds Independent contractor; Serono EMD Royalty Speaking and teaching; Pfizer Royalty Speaking and teaching; Berlex Royalty Speaking and teaching

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

References
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