Conoce los síndromes asociados a mutaciones en el gen NALCN y UNC80 y sus síntomas asociados.


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). 

Breathing abnormalities in combination with muscular hypotonia and developmental delay/ID or the occurrence of contractures, are strongly suggestive of a ‘NALCN channelopathy’ and should lead to analysis of the NALCN/UNC80 gene.