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Table 2 Clinical management and Genotype-targeted treatment implications of patients with variants identified

From: Exome sequencing in paediatric patients with movement disorders

Patient Movement disorders Gene with variants found Genotype-targeted treatment implication in literature Treatment offered and clinical outcome/ follow up
12 Dystonia CTNNB1 and COL1A1 (1) CTNNB1: L-dopa treatment [12]
(2) COL1A1: Treatment to prevent bone fracture resulted from osteogenesis imperfecta
Dopa treatment was offered but has not started yet
Genetic finding explained the phenotypes of blue sclera and bone fractures in that patient who has been referred to the endocrinologist for further management
17 Dystonia, Choreoathetosis with status dystonicus GNAO1 Tetrabenazine, GPi-DBS [9] Tetrabenazine was used with improvement before the patient passed away with sudden death
19 Spastic paraplegia SPG11 L-dopa and sapropterin treatment [8] The patient had just commenced on Dopa treatment
20 Rigidity with parkinsonism features, Spasticity, Paroxysmal worsening of parkinsonism ATP1A3 Calcium channel blockers, ATP supplementation [26] The treatment has been offered but declined by the patient
27 Cerebellar ataxia, spasticity SLC2A1 Ketogenic diets [27, 28] The diet has been offered but the patient refused due to anticipated poor compliance
29 Dystonia, Spasticity KMT2B GPi-DBS [10, 30] The patient has received GPi-DBS with mild improvement in dystonia a few months after the surgery and more definitive effectiveness will be evaluated in the future
30 Cerebellar ataxia, spasticity, rigidity SPG11 L-dopa and sapropterin treatment [8] The patient has been checked to have low HVA in CSF and received Dopa replacement therapy without any clinical response
31 Dystonia, spasticity ACTB GPi-DBS [31,32,33] Plan has been made for the patient to be evaluated for GPi-DBS
  1. GPi-DBS  Globus pallidus interna deep brain stimulation, HVA homovanillic acid, CSF cerebrospinal fluid