eMedicine Specialties > Neurology > Neuromuscular Diseases

Schwartz-Jampel Syndrome: Differential Diagnoses & Workup

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

Differential Diagnoses

Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies
Periodic Paralyses
Congenital Muscular Dystrophy
Stiff Person Syndrome
Congenital Myopathies
Myasthenia Gravis
Myokymia

Other Problems to Be Considered

Isaacs syndrome
Malignant hyperthermia
Stuve-Wiedemann syndrome
Becker dystrophy
Blepharospasm, benign essential
Duchenne dystrophy
Myotonic diseases

Workup

Laboratory Studies

  • 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 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. Spine films reveal kyphosis. X-ray films can reveal other skeletal deformities but generally are not necessary for diagnosis.

Other Tests

  • EMG and nerve conduction studies
    • The symptoms of muscle stiffness and difficulty relaxing the muscles may prompt EMG and nerve conduction studies.
    • Typically, the nerve conduction findings are normal.
    • 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.

Procedures

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

Histologic Findings

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

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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