Table 2.

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

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 [31–33]	Plan has been made for the patient to be evaluated for GPi-DBS

GPi-DBS  Globus pallidus interna deep brain stimulation, HVA homovanillic acid, CSF cerebrospinal fluid