Schwartz-Jampel Syndrome Differential Diagnoses

1. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. 1962 Jul. 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. 2011 Nov. 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. 2003 May 1. 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. 2006 Mar-Apr. 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. 1995 Sep. 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. 2000 Dec. 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. 2006 Aug 22. 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. 2007 Mar 1. 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. 2001 Apr. 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. 2004 Feb. 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. 2005 Apr-May. 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. 2006 Jan-Feb. 22(1):57-9. [Medline].

15. Oue T, Nishimoto M, Kitaura M, et al. [Anesthetic management of a child with Schwartz-Jampel syndrome]. Masui. 2004 Jul. 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. 2006 May. 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. 2010 Jun. 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. 2006 Jul. 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. 2001 Aug. 27(8):703-8. [Medline].

20. Mallineni SK1, Yiu CK, King NM. Schwartz-Jampel syndrome: a review of the literature and case report. Spec Care Dentist. 2012 Jun. 2012 Jun;32(3):105-11. doi: 10.1111/j.1754-4505.2012.00249.x. Epub 2012 Apr 26.:

21. Reed UC1, Reimao R, Espindola AA, et al. Schwartz-Jampel syndrome: report of five cases. Arq Neuropsiquiatr. Sep. 2002 Sep;60 (3-B):734-8.:734-8.

Eli S Neiman, DO, FACN Clinical Associate Professor of Neurology, Department of Neurology, Kansas City University of Medicine and Biosciences College of Osteopathic Medicine; Clinical Assistant Professor, Robert C Byrd Health Science Center, West Virginia University School of Medicine; Assistant Professor of Neurology, Hackensack Meridian School of Medicine at Seton Hall University; Neurologist and Clinical Neurophysiologist, National Neuromonitoring Services, LLC; Neurologist, Advanced Neurology Center

Eli S Neiman, DO, FACN is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Osteopathic Association

Disclosure: Nothing to disclose.

Nicholas Lorenzo, MD, MHA, CPE Co-Founder and Former Chief Publishing Officer, eMedicine and eMedicine Health, Founding Editor-in-Chief, eMedicine Neurology; Founder and Former Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc; Chief Strategy Officer, Discourse LLC

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

Disclosure: Nothing to disclose.

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.

Jennifer L Ault, DO, DPT Physician, Department of Pain Management, Sutter East Bay Medical Foundation

Jennifer L 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.

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

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