eMedicine Specialties > Neurology > Neuromuscular Diseases

Schwartz-Jampel Syndrome: Follow-up

Author: Stephen A Berman, MD, PhD, Professor, Department of Internal Medicine, Section of Neurology, Dartmouth Medical School; Chief, Neurology Service, White River Junction Veterans Medical Center
Coauthor(s): Eric Dinnerstein, MD, Consulting Staff Neurologist, Maine Neurology
Contributor Information and Disclosures

Updated: Feb 2, 2007

Follow-up

Prognosis

  • Except for the patients with Stuve-Wiedemann syndrome, which is fundamentally a different disease, most patients have a good prognosis.
  • Muscle stiffness, muscle weakness, and skeletal abnormalities may worsen gradually or remain essentially stable.

Patient Education

  • Because patients with SJS have a characteristic physical appearance, they may need extra psychosocial support.
  • As in all diseases causing muscle stiffness, the danger exists of iatrogenic addiction to muscle relaxants such as diazepam (which is not particularly useful in this condition).
  • If patients are treated with the medications listed in this article or with other medications, they should be educated about the adverse effects.
  • The subset (as many as 20%) of patients who also have mental retardation require special education for that problem.

Miscellaneous

Medicolegal Pitfalls

  • The tendency to malignant hyperthermia could lead to adverse outcomes in surgery.
  • Cosmetic surgery to relieve the blepharospasm, blepharophimosis, and ptosis carries a medicolegal risk.
 


More on Schwartz-Jampel Syndrome

Overview: Schwartz-Jampel Syndrome
Differential Diagnoses & Workup: Schwartz-Jampel Syndrome
Treatment & Medication: Schwartz-Jampel Syndrome
Follow-up: Schwartz-Jampel Syndrome
References
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References

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Further Reading

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Keywords

Schwartz Jampel syndrome, chondrodystrophic myotonia, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Schwartz-Jampel-Aberfeld syndrome, SJA syndrome, SJS

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Contributor Information and Disclosures

Author

Stephen A Berman, MD, PhD, Professor, Department of Internal Medicine, Section of Neurology, Dartmouth Medical School; Chief, Neurology Service, White River Junction Veterans Medical Center
Stephen A Berman, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Eric Dinnerstein, MD, Consulting Staff Neurologist, Maine Neurology
Eric Dinnerstein, MD is a member of the following medical societies: American Academy of Neurology and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Daniel H Jacobs, MD, Clinical Associate Professor, Department of Neurology, University of Florida
Daniel H Jacobs, MD 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

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Agapito S Lorenzo, MD, Laboratory Director, Associate Professor, Departments of Neurology, Creighton University and University of Nebraska Medical Center
Agapito S Lorenzo, MD is a member of the following medical societies: American Academy of Neurology and American Association of Neuromuscular and Electrodiagnostic Medicine
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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