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Schwartz-Jampel Syndrome Workup

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

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.


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.

Contributor Information and Disclosures

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.


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.


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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