Hallervorden-Spatz Disease Treatment & Management

  • Author: Philip A Hanna, MD; Chief Editor: Selim R Benbadis, MD   more...
 
Updated: Jan 12, 2012
 

Approach Considerations

The treatment of patients with Hallervorden-Spatz disease (HSD) remains directed toward symptomatic findings. Tremor in patients with HSD responds best to dopaminergic agents. The anticholinergic agent benztropine helps rigidity and tremor. Benzodiazepines have been tried for choreoathetotic movements.

Hypertonia is usually a combination of rigidity and spasticity and may be difficult to treat. Dopamine agonists and anticholinergics may help to reduce rigidity. Baclofen in moderate doses relieves the stiffness and spasms and can reduce dystonia.

Symptoms such as drooling and dysarthria can be troublesome. Treat excessive drooling with a medication such as methscopolamine bromide. Dysarthria may respond to medications used for rigidity and spasticity. Speech therapy also may be useful, and computer-assisted devices may be employed in the treatment of patients with advanced cases. Gastrostomy feeding may be necessary in advanced cases of dysphagia.

A multidisciplinary team approach involving physical, occupational, and speech therapists may be needed in selected patients with a protracted course to improve functional skills and communication.

Systemic chelating agents, such as desferrioxamine, have been used in an attempt to remove excess iron from the brain, but these have not proved beneficial. Dementia is progressive, and no treatment has proved clearly effective.

Inpatient care

Admission for supportive care is occasionally necessary.

Referrals

Referral to a neurologist, particularly a movement disorders specialist, is helpful. Rehabilitation physicians often are consulted to coordinate therapy regimens.

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Treatment of Dystonia

Dystonia is the most prominent and disabling symptom of HSD and may respond to a modest extent to dopaminergic agents such as levodopa and bromocriptine (a dopamine agonist). Other dopamine agonists, such as ropinirole or pramipexole, can also be considered, although no formal studies have been conducted on their efficacy in HSD.

Anticholinergics, such as trihexyphenidyl, may be used when dopaminergic agents are not helpful. However, these medications bring only transient relief for dystonia, and physical therapy is often of limited benefit. Botulinum toxin can be injected into severely affected muscles to relieve dystonia.

Surgical care

Because dystonia is a prominent feature of HSD, the globus pallidus has been a target for surgical treatment. Stereotactic pallidotomy and bilateral thalamotomy have occasionally been tried in patients with severe dystonia, resulting in partial relief of symptoms.[29] Deep brain stimulation of the globus pallidus has been used in these patients with promising results.[30, 31]

Continuous intrathecal baclofen infusion has been tried for refractory, generalized dystonia without much success.

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Contributor Information and Disclosures
Author

Philip A Hanna, MD  Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Residency Program Director, New Jersey Neuroscience Institute, JFK Medical Center; Neurology Director, Huntington's Disease Unit, JFK Hartwyck-Cedarbrook

Philip A Hanna, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Movement Disorders Society

Disclosure: Nothing to disclose.

Coauthor(s)

Neeta Garg, MD, DM  Assistant Professor, Department of Neurology, University of Buffalo State University of New York School of Medicine and Biomedical Sciences

Neeta Garg, MD, DM is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Additional Contributors

Nestor Galvez-Jimenez, MD, MSc, MHA Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Brian L Gerhardstein, MD, PhD Staff Physician, Department of Neurology, New Jersey Neuroscience Institute, JFK Medical Center

Disclosure: Nothing to disclose.

Christopher Luzzio, MD Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison

Christopher Luzzio, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

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

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Magnetic resonance imaging (MRI) has increased the likelihood of antemortem diagnosis of Hallervorden-Spatz (HSD) disease. The typical MRI reveals bilaterally symmetrical, hyperintense signal changes in the anterior medial globus pallidus, with surrounding hypointensity in the globus pallidus, on T2-weighted images. These imaging features, which are fairly diagnostic of HSD, have been termed the eye-of-the-tiger sign. The hyperintensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling. The surrounding hypointensity is due to loss of signal secondary to iron deposition.
 
 
 
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