Table 2.
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