Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Egyptian Journal of Medical Human Genetics

Table 5 Treatment, response and outcome after confirmed genetic diagnosis:

Patient	Treatment	Response	Outcome
P1	Carbamazepine	Events stopped	Improved speech difficulties
P2	Modified atkins diet	Events stopped	Improved attention span and mood
P3	Trihexyphenidyl (anticholinergic) Bromocriptine (dopamine agonist) Pyridoxine	Symptomatic relief	Less frequent dystonic crises Occasional oculogyric crises Improved sleep and less agitation Improved truncal tone Profound developmental delay
P4	Baclofen Coenzyme Q10 Levocarnitine Low-fat and high carbohydrate diet	Symptomatic relief	Improved spasticity
P5	Diet (medium chain triglycerides during periods of increased activity) Levocarnitine	Symptomatic relief	Less pain and muscle cramps
P6^a	Lamotrigine and clonazepam Valproic acid (weaned off) L-serine, 1500 mg TID Riboflavin, 100 mg TID Coenzyme Q10, 10 mg OD Levocarnitine, 1000 mg BID Low-fat and high carbohydrate diet	Controlled seizures	Improved ataxia Less frequent falls Mild truncal hypotonia