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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