Table 5. [NKX2-1-Related Disorders: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Chorea	Tetrabenazine, deutetrabenazine, or valbenazine starting at low doses & gradually increasing dose to optimally control symptoms	Considered a first-line treatment for chorea. Reported to ↓ chorea in low doses. ¹ Dosage recommendation: Children: 0.5 mg/kg/day starting dose divided into 2-3 doses Adults: 37.5 mg/day starting dose divided into 2-3 doses
Levodopa, esp in persons w/gait abnormalities	Reported to improve chorea in some children; can be considered as second-line therapy. ² Has been shown to cause dramatic & substantial improvement in gait abnormalities (specifically ↓ falls); can be used as first-line therapy in children w/gait impairment.
Pulmonary dysfunction	Respiratory support as needed in neonatal period Early & aggressive treatment of asthma Early & aggressive treatment of respiratory infections RSV vaccination in infancy Routine vaccinations Treatment of ILD by pulmonologist
Pulmonary carcinoma	Standard treatment per oncologist & pulmonologist
Hypothyroidism /Thyroid dysfunction	Thyroid hormone replacement per endocrinologist	Early initiation in neonatal period is critical to avoid neurodevelopmental consequences of untreated hypothyroidism.
Motor & gait issues	Early intervention & PT
Neuropsychiatric issues	Standard treatment per neuropsychiatrist

Manifestation/Concern

Treatment

Considerations/Other

Chorea

Tetrabenazine, deutetrabenazine, or valbenazine starting at low doses & gradually increasing dose to optimally control symptoms

Considered a first-line treatment for chorea.
Reported to ↓ chorea in low doses. ¹
Dosage recommendation:
- Children: 0.5 mg/kg/day starting dose divided into 2-3 doses
- Adults: 37.5 mg/day starting dose divided into 2-3 doses

Levodopa, esp in persons w/gait abnormalities

Reported to improve chorea in some children; can be considered as second-line therapy. ²
Has been shown to cause dramatic & substantial improvement in gait abnormalities (specifically ↓ falls); can be used as first-line therapy in children w/gait impairment.

Pulmonary dysfunction

Respiratory support as needed in neonatal period
Early & aggressive treatment of asthma
Early & aggressive treatment of respiratory infections
RSV vaccination in infancy
Routine vaccinations
Treatment of ILD by pulmonologist

Pulmonary carcinoma

Standard treatment per oncologist & pulmonologist

Hypothyroidism /Thyroid dysfunction

Thyroid hormone replacement per endocrinologist

Early initiation in neonatal period is critical to avoid neurodevelopmental consequences of untreated hypothyroidism.

Motor & gait issues

Early intervention & PT

Neuropsychiatric issues

Standard treatment per neuropsychiatrist

From: NKX2-1-Related Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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