Table 1.

Treatable causes of movement disorders that may mimic CP

Disorder	Clinical Diagnostic Clues	Paraclinical Investigations	Treatment
GLUT1 deficiency	Paroxysmal episodes Worsening with fasting or exercise	Hypoglycorrhachia Normal brain MRI	Ketogenic diet Triheptanoin
Dopa‐responsive dystonia	Diurnal fluctuations Oculogyric crises	Normal brain MRI	l‐dopa
Dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease		Elevated blood manganese T1‐weighted hyperintensities of the globus pallidus, putamen, caudate, and dentate nuclei	Chelation therapy and iron supplementation
Ataxia with vitamin E deficiency	Head tremor	Low plasma vitamin E	High doses of vitamin E
Niemann‐Pick disease type C	Supranuclear gaze palsy Enlarged liver or spleen	Positive filipin test Elevated serum levels of oxysterols	Miglustat
Biotin‐thiamine–responsive basal ganglia disease	Episodes of subacute encephalopathy	T2‐weighted hyperintensities in the caudate nuclei and putamen	High doses of biotin and thiamine
Cerebrotendinous xanthomatosis	Chronic diarrhea Bilateral cataract	Elevated cholestanol T2‐weighted hyperintensities of the dentate nuclei	Chenodeoxycholic acid
Pyruvate dehydrogenase deficiency	Paroxysmal episodes	Elevated lactate T2‐weighted hyperintensities of the globus pallidus	High doses of thiamine