P340: A rare case of NALCN-related neurodevelopmental disorder with hypotonia and multiple anomalies in Old Order Amish
Abstract
No disease-specific therapies currently exist for NALCN-related disorders. Management focuses on a multidisciplinary approach, including physical, occupational, and speech therapy to address motor and feeding difficulties; nutritional support from a dietitian; urologic management of cryptorchidism; ophthalmologic care for visual deficits; and dietary and pharmacologic management of constipation. Regular follow-ups were scheduled to monitor seizures, sleep apnea, and respiratory dysregulation.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Hereditary Neurological Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103834–103834
- Publication date
- 1 January 2026
- Language
- EN