Some treatable disorders to consider when evaluating a movement disorder
| Disease | Presentation | Confirmatory tests |
|---|---|---|
| CSF, cerebrospinal fluid; PCR, polymerase chain reaction; PSP, progressive supranuclear palsy; SPECT, single photon emission computed tomography. | ||
| Wilson's disease | Tremor, dystonia, parkinsonism, myoclonus Kayser-Fleischer rings | Serum caeruloplasmin, liver biopsy with copper estimation |
| Segawas disease | Dopa responsive dystonia, parkinsonism, cerebral palsy-like presentation | SPECT (DAT scan), phenylalanine loading test |
| Coeliac disease | Myoclonus, ataxia | Coeliac antibodies, small bowel biopsy |
| Whipple's disease | Oculomasticatory myorhythmia, myoclonus, supranuclear gaze palsy with PSP like picture | CSF PCR for Tropheryma whippeli, small bowel biopsy with electron microscopy |
| Myoclonic hereditary dystonia | Jerky head and arm movements | Striking improvement with alcohol and clonazepam |