NKX6-2

Management

The management is supportive.

It includes regular physiotherapy and occupational therapy to address the spasticity. Also, mobility aids and devices should be offered and tailored to patient’s needs.

Drug treatment used in tone management include baclofen or tizanidine. Baclofen pump may be helpful in severe cases.

Some individuals have presented severe dysphagia requiring gastrostomy or PEG feeding.

Several cases have been complicated with breathing problems and respiratory insufficiency leading to early death therefore prompt assessment and intervention is recommended when such symptoms develop.