Table 3

Common metabolic and genetic disorders that mimic CP according to the prominent motor dysfunction.

Disorders with prominent spasticityDisorders with prominent dyskinesiaDisorders with prominent ataxia
-  Hereditary spastic paraglegias
-  Arginase deficiency
-  COL4A1-Related spastic CP
-  Biotinidase deficiency
-  Aicardi-Goutières syndrome
-  Sulfite oxidase deficiency/Molybdenum cofactor deficiency22
-  Leukodystrophies, such as metachromatic leukodystrophy,23 adrenoleukodystrophy,24 Sjorgen Larsson syndrome25		-  Dopa-responsive dystonia
-  Sepiapterin reductase deficiency
-  Glutaric aciduria type 1
-  Glucose transporter deficiency type 1
-  Neurodegeneration with brain iron accumulation
-  Cerebral creatine deficiency syndrome
-  Lesch Nyhan syndrome
-  Cerebral folate deficiency
-  ADCY5-related dyskinesia
-  PCDH12-related dyskinesia34
-  NKX2-1 related ataxic dyskinetic CP35
-  TSEN54 Gene-related pontocerebellar hypoplasia type 236		-  Glucose transporter deficiency type 1
-  Ataxia telangiectasia
-  Pelizaeus-Merzbacher disease
-  Hereditary ataxias
-  Joubert syndrome
-  Mitochondrial cytopathies (mainly 8993 mutation)42
-  Pontocerebellar hypoplasia36
-  Cockayne syndrome43
-  Niemann-Pick disease type C44
-  Angelman syndrome12
-  Gangliosidosis type 1, juvenile and adult forms45
-  Non-ketotic hyperglycinemia3
-  Maple syrup urine disease3
-  NKX2-1 related ataxic dyskinetic CP35

  • CP- cerebral palsy