Schwartz-Jampel Syndrome Treatment & Management

  • Author: Jennifer Ault, DO, DPT; Chief Editor: Nicholas Lorenzo, MD   more...
 
Updated: Feb 1, 2012
 

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, and 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, and 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: Janssen Pharmaceuticals Grant/research funds PI conpensation

Chief Editor

Nicholas Lorenzo, MD  Consulting Staff, Neurology Specialists and Consultants

Nicholas Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and American College of Physician Executives

Disclosure: Nothing to disclose.

Additional Contributors

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

  1. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. Jul 1962;68:52-7. [Medline].

  2. Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. Ultrasound Obstet Gynecol. Nov 2011;38(5):553-8. [Medline].

  3. Di Rocco M, Stella G, Bruno C, et al. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A. May 1 2003;118(4):362-8. [Medline].

  4. Reither M, Urban M, Kozlowski KS, et al. [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate]. Klin Padiatr. Mar-Apr 2006;218(2):79-84. [Medline].

  5. Nicole S, Ben Hamida C, Beighton P, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. Sep 1995;4(9):1633-6. [Medline].

  6. Nicole S, Davoine CS, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet. Dec 2000;26(4):480-3. [Medline].

  7. Stum M, Davoine CS, Vicart S, et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. Aug 22 2006;27(11):1082-1091. [Medline].

  8. Rodgers KD, Sasaki T, Aszodi A, Jacenko O. Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. Hum Mol Genet. Mar 1 2007;16(5):515-28. [Medline].

  9. Stum M, Girard E, Bangratz M, et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet. July 2008.

  10. Arikawa-Hirasawa E, Wilcox WR, Le AH, et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet. Apr 2001;27(4):431-4. [Medline].

  11. Fasanelli S, Kozlowski K, Reiter S, Sillence D. Dyssegmental dysplasia (report of two cases with a review of the literature). Skeletal Radiol. 1985;14(3):173-7. [Medline].

  12. Dagoneau N, Scheffer D, Huber C, et al. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. Feb 2004;74(2):298-305. [Medline].

  13. Regalo SC, Vitti M, Semprini M, et al. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. Electromyogr Clin Neurophysiol. Apr-May 2005;45(3):183-9. [Medline].

  14. Morrison DA, Mellington FB, Hamada S, Moore AT. Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections. Ophthal Plast Reconstr Surg. Jan-Feb 2006;22(1):57-9. [Medline].

  15. Oue T, Nishimoto M, Kitaura M, et al. [Anesthetic management of a child with Schwartz-Jampel syndrome]. Masui. Jul 2004;53(7):782-4. [Medline].

  16. Stevens MF, Golla E, Lipfert P. [Intraoperative and postoperative analgesia with a caudal catheter in a child suffering from Schwartz-Jampel syndrome.]. Anaesthesist. May 2006;55(5):555-60. [Medline].

  17. Hassan A, Whately C, Letts M. The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome. J Bone Joint Surg Br. Jun 2010;92(6):880-4. [Medline].

  18. Vargel I, Canter HI, Topaloglu H. Results of Botilinum Toxin: An Application to Blepharospasmin Schwartz-Jampel Syndrome. J Craniofac Surg. Jul 2006;17(4):656-660. [Medline].

  19. Flynn TC, Carruthers JA, Carruthers JA. Botulinum-A toxin treatment of the lower eyelid improves infraorbital rhytides and widens the eye. Dermatol Surg. Aug 2001;27(8):703-8. [Medline].

 
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