Diagnostic Considerations

Primarily dystonic juvenile parkinsonism and AREPDF

Dystonia predominates in dystonic juvenile parkinsonism (DJP) and autosomal-recessive early onset parkinsonism with diurnal fluctuation (AREPDF). Parkinsonism (in addition to dystonia) is apparent in dopamine-responsive dystonia (DRD).^[30]

DJP presents in the first half of the second decade^[31]with stumbling, pes equinovarus, and upper limb involvement that is typically asymmetrical. Forward bending of the head and trunk appear later. Symptoms vary diurnally, with aggravation during activity and improvement with sleep. The long-term levodopa benefit is limited.^[32]

Sustained response to levodopa without adverse effects of long-term treatment distinguishes DRD from early onset parkinsonism with dystonia.

Early onset idiopathic parkinsonism

This presents in the fourth decade, whereas DRD presents in childhood. Positron emission tomography (PET) scan studies show normal striatal fluorodopa uptake in DRD, whereas patients with Parkinson disease have reduced uptake. Patients with DRD presenting in infancy or early childhood may be misdiagnosed with cerebral palsy or spastic diplegia. Extrapyramidal signs may occur later; disappearance of spasticity and extrapyramidal signs following levodopa therapy confirms the diagnosis of DRD.^[33]

A case report of spinocerebellar ataxia type 3 and adult-onset spastic paraplegia have been shown to clinically present as DRD.

In early onset dystonia, Wilson disease, Hallervorden-Spatz disease, and neuroacanthocytosis should be considered.

The variations in presentation of DRD (eg, spasmodic torticollis, oromandibular dystonia, writer's cramp) should be differentiated from idiopathic (ie, dopamine-nonresponsive) focal dystonias. A therapeutic trial with levodopa is the definitive way to establish the diagnosis.

Additional considerations

Conditions to consider in the differential diagnosis of DRD also include the following:

Oromandibular dystonia
Focal dystonia
Cerebral palsy
Dystonia musculorum deformans
Dyspeptic dystonia with hiatal hernia (Sandifer syndrome)
Medication reactions - Eg, phenothiazines, butyrophenones
Metabolic diseases - Eg, GM2 gangliosidosis, phenylketonuria, hypothyroidism, Leigh disease

Differential Diagnoses

Ataxia with Identified Genetic and Biochemical Defects
Parkinson Disease
Parkinson Disease in Young Adults
Parkinson-Plus Syndromes
Pediatric Torticollis Surgery
Progressive Supranuclear Palsy
Rehabilitation and Cerebral Palsy
Spasticity
Wilson Disease

Workup

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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

Dopamine-Responsive Dystonia Differential Diagnoses

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