Table 4.

Treatment of Manifestations in Individuals with NKX6-2-Related Spastic Ataxia with Hypomyelination

Manifestation/
Concern		TreatmentConsiderations/Other
Eyes Standard treatment per ophthalmology reviewCommunity vision services through early intervention or school district
Hearing Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Congenital
heart defect 		Standard treatment per cardiologist
Respiratory
insufficiency 		Standard treatment per respiratory review; consider assisted ventilation as appropriate.
  • Airway & pulmonary assessment for evidence of ↓ pulmonary function or poor secretion mgmt
  • Sleep study
Dysphagia /
Inadequate
nutrition 		Nasogastric or gastrostomy tube may be required.Maintain a low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs &/or symptoms of dysphagia.
Cryptorchidism Standard treatment per urologist
Spasticity
  • PT (incl stretching) to avoid contractures & falls
  • Trial of pharmaceutical agents (e.g., baclofen or tizanidine) as recommended by rehab specialist
  • Assess for evidence of spasticity.
  • Consider need for positioning & mobility devices, disability parking placard.
Seizures Anti-seizure medicationTypically difficult to control 1
Family/
Community
  • Appropriate social work involvement to connect families w/local resources, respite, & support
  • Care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies
  • Ongoing assessment for need of palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

PT = physical therapy

1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: NKX6-2-Related Disorder

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