Approach Considerations

All patients with dopamine-responsive dystonia (DRD) should be treated with the levodopa/carbidopa combination. Early treatment can prevent morbidity and contracture formation. In patients with autosomal recessive TH or SR deficiency, early treatment with levodopa may also reduce the motor and intellectual developmental delay.

Surgical care

A fixed equinovarus foot deformity has been corrected surgically after treating the dystonia with levodopa.^[46]

Consultations

Physical therapy is particularly important if the patient has a contracture or chronic gait disturbance.

Diet

An in vitro study suggested that oral BH4 supplementation could have a potential benefit in disorders associated with TH misfolding, such as DRD^[47]; however, this awaits further confirmation.

Follow-up

Regular outpatient follow-up is required for patients with DRD to assess the efficacy of treatment and to adjust the dopamine dose accordingly. Although uncommon, dyskinesias and chorea may develop in treated patients. Monitor patients carefully for these conditions.

Medication

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Author

Nirjal K Nikhar, MD, FRCP Private Practice

Nirjal K Nikhar, MD, FRCP is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Coauthor(s)

Haresh Mani, MD Assistant Professor, Department of Pathology, Milton S Hershey Medical Center, Pennsylvania State University College of Medicine

Disclosure: Nothing to disclose.

Syed M S Ahmed, MD Neurologist and Sleep Specialist, Capital Neurology and Sleep Medicine; Staff Attending in Neurology and Sleep Medicine, Montgomery General Hospital; Staff Attending in Neurology and Sleep Medicine, Suburban Hospital

Syed M S Ahmed, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, Maryland State Medical Society

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Acknowledgements

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.

Ann M Neumeyer, MD Clinic Director, Instructor, Departments of Neurology and Pediatrics, Massachusetts General Hospital, Harvard Medical School

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, and Massachusetts Medical Society

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