Table 1 Baseline characteristics

Patient characteristics

 Sex (male/female)

 Age (years)^a

Age at symptom-onset (years)^a

Duration of symptoms (years)^a

Referral questions

 Movement disorder classification

 Etiology

 Treatment

MD classification

 Ataxia

 Dystonia

 Myoclonus

 Other^b

 Unclassified

Etiological diagnosis

Inherited etiologies

 Monogenic

  ARX mutation

  Ataxia telangiectasia

  Coffin Lowry syndrome

  Glutaric aciduria type 1

  GLI2 mutation

  GOSR2 mutation

  GTPCH deficiency (DYT5)

  Proprionacidemia

  SCN1A mutation

  THAP1 mutation (DYT6)

  TITF1 mutation

  Microdeletion 19p13.2p13.13 (NFIX and CACNA1A gene)

  Partial deletion chromosome 7q (SCGE gene)

  Uniparental disomia chromosome 7 (SCGE gene)

Acquired etiologies

  Infectious

  Perinatal asphyxia

  Functional