Differentials
Athetoid or spastic cerebral palsy
SIGNS / SYMPTOMS
Patients typically present with other signs of developmental delay from birth.
INVESTIGATIONS
Cranial CT or MRI may reveal periventricular leukomalacia or evidence of cerebral anoxia or infarct.
Huntington disease (HD)
SIGNS / SYMPTOMS
Typically present with psychosis or mood disorder. Cognitive impairment or dementia may be prominent and seizures may also be present.
Choreiform movements are more irregular and unsustained than dystonia, which is more sustained and stereotyped.
INVESTIGATIONS
HD gene >40 trinucleotide CAG repeats.
Parkinson disease (PD) or atypical parkinsonism
SIGNS / SYMPTOMS
Typical features are bradykinesia, rigidity, and tremor.
INVESTIGATIONS
Diagnosis is clinical.
Functional neuroimaging may show reduced dopamine uptake.
MRI scan may show cerebral atrophy in advanced disease.
Wilson disease
SIGNS / SYMPTOMS
Patients may present with a history of liver disease.
Detection of Kayser-Fleischer rings on slit-lamp exam, representing copper deposition on Descemet membrane on the cornea. This is virtually pathognomonic.
INVESTIGATIONS
Abnormal LFTs.
Serum ceruloplasmin is <20 mg/dL; 24-hour urinary copper is >100 micrograms.
Functional dystonia
SIGNS / SYMPTOMS
Patients may present with an unusual pattern of dystonia and discrepancy between patient's disability and objective signs. Psychological comorbidity may be present.[2]
INVESTIGATIONS
Diagnosis is clinical.
Nondystonic torticollis
SIGNS / SYMPTOMS
A history or exam consistent with ocular motility problems, nuchal mass, atlantoaxial subluxation, or other structural cervical spine abnormality.
INVESTIGATIONS
Cervical spine imaging may show skeletal pathology (e.g., nuchal mass, atlantoaxial subluxation, or other structural cervical spine abnormality).
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