FACT SHEET ABOUT HEALTH CONDITIONS CAUSED BY CHANGES IN THE NALCN GENE. This fact sheet contains information about the possible impact of a change (variant) in the NALCN gene on your child and family. You can talk about the information in this fact sheet with your paediatrician or GP (family doctor). The links in the fact sheet may help you move forward with family life beyond receiving this rare diagnosis.
ARE NALCN CONDITIONS RARE?
CLIFAHDD and IHPRF are ULTRA-RARE severe neurodevelopmental syndromes linked to mutations in the
NALCN gene and UNC80 gene, a key regulator of neuronal and endocrine involved in essential physiological processes
(e.g., locomotion, breathing, sleep, pain & digestion). Mutations causing disease severely impact on
the protein function and to date, no treatment are available.
NALCN CONDITIONS are very debilitating rare disorders that impose a life-long economical and social burden to families of affected children. Although rare disorders are recognized as a public health priority, there is no current treatment available to cure or alter disease progression. In addition, a systematic study of diagnostic criteria for this symptoms has not been undertaken.
We are an ultra-rare condition. CLIFAHDD: 45 patients with de novo mutations; IHPRF1: 40 patients from 24 families reported to date; iIHPRF2: 32 patients from 21 families).