What is congenital cranial nerve disease?

  With recent advances in neuropathology, neuroimaging, and genetics, the concept of CCDDs was introduced in 2002 at the 110th ENMC (European Neuromuscular Centre) International Working Conference. It is a group of congenital, non-progressive cranial neuromuscular disorders, which can be disseminated or familially inherited, and is due to abnormal development or complete absence of one or more cranial nerves, resulting in primary or secondary abnormal innervation of muscles. dysinnervation disorders (CCDDs).  In CCDDs, primary abnormal innervation may result from a lack of normal innervation of the muscle because the associated alpha motor neurons of the cranial nerve are either underdeveloped or misdirected during development. Secondary abnormal innervation may result from abnormal innervation of the muscle by other nerves during development after the absence of normal innervation. This is characterized by abnormal vertical eye movements, abnormal horizontal eye movements, and facial nerve palsy. These include: (1) different types of congenital fibrosis of extraocular muscle (CFEOM) syndrome, which is characterized by congenital non-progressive extraocular muscle paralysis with or without ptosis, fixed strabismus, and varying degrees of oculomotor limitation in all directions.  (2) Marcus Gunn syndrome (mandibular transient syndrome).  (3) Different types of Duane’s syndrome (retro-ocular syndrome).  (4) Familial horizontal gaze palsy with progressive scoliosis.  (5) Moebius syndrome and congenital facial nerve palsy, etc.