Congenital Cranial Dysinnervation Disorders: A Literature Review
1From the Clinical Vision Science Faculty of Health, IWK Health Centre Eye Clinic, Dalhousie University, Halifax, Nova Scotia, Canada.
The American Orthoptic Journal
|September 15, 2017
Summary
Congenital cranial dysinnervation disorders (CCDD) are neurogenic syndromes resulting from cranial nerve issues, not muscle problems. Research advances understanding of cranial nerve development and improves patient treatments.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Congenital cranial dysinnervation disorders (CCDD) were previously misidentified as congenital fibrosis syndrome, focusing on muscle maldevelopment.
- Recent genetic and neuro-radiological studies reveal CCDD stem from primary cranial nerve innervation deficits.
Purpose of the Study:
- To provide an overview of known genes and phenotypes associated with CCDD.
- To highlight current research in cranial nerve development within the CCDD domain.
Main Methods:
- Review of current genetic and neuro-radiological findings.
- Synthesis of existing research on cranial nerve development and CCDD.
Main Results:
- Identification of specific genes and phenotypes linked to CCDD.
- Demonstration that fibrotic muscles in CCDD are secondary to innervation issues.
Conclusions:
- CCDD are primarily neurogenic disorders affecting cranial nerve function.
- Increased research is enhancing the understanding of efferent motor system development and leading to better therapeutic strategies for CCDD patients.
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