Schwartz-Jampel Syndrome Workup

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

Approach Considerations

Blood tests

Blood tests may show minor elevations of serum creatine kinase or aldolase. However, in many cases, these enzyme levels are normal. Now that the genes are known, sequencing or polymerase chain reaction (PCR) assay studies could be performed, but the specific genes are still not available as tests that can be ordered from a commercial laboratory. Physicians might consider referring suspected cases to genetic clinics that have affiliations with groups actively researching SJS so that genetic studies can be performed.

Imaging studies

Imaging studies are of little use. Spinal films reveal kyphosis. Radiographs can reveal other skeletal deformities but generally are not necessary for diagnosis.

Muscle biopsy

Muscle biopsy findings of patients with SJS are consistent with a myopathy.

Histologic findings

Minor, ultrastructural abnormalities have been described in SJS, but no specific electron microscope signature is known for the disorder. Light microscope findings are usually suggestive of a myopathy. Variations in muscle fiber size are common. As the individual ages and the disease becomes more advanced, fat and connective tissue may replace muscle fibers.

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EMG and Nerve Conduction Studies

The symptoms of muscle stiffness and of difficulty relaxing the muscles may prompt EMG and nerve conduction studies in a patient. Typically, the nerve conduction findings are normal.[13]

The EMG needle study may show continuous discharges. These discharges frequently have the individual appearance of positive sharp waves or fibrillations, but they occur in runs of many discharges.

In some cases, the discharges have been described as myotonic, which suggests a waxing and waning character. In other cases, the discharges have not shown waxing or waning. In such cases, they would be considered complex, repetitive discharges.

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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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