Angels-like
Angelman-like syndrome is a neurogenetic disorder characterized by a series of signs and symptoms that resemble Angelman syndrome, but with important variations. Although the two syndromes share many similar characteristics, there are subtle differences that can help distinguish them clinically.
Contexto shortcodes
Angelman-like syndrome is a neurogenetic disorder that primarily affects cognitive and motor development. Patients usually present with a combination of signs such as hypotonia, speech difficulties, repetitive behaviors, and balance problems.
Diagnostic Criteria
The diagnosis of Angelman-like syndrome can be challenging due to the variability in clinical signs. Although the main causes are epigenetic anomalies and mutations in the UBE3A gene, there are 10% of clinically diagnosed cases that are negative in molecular tests. The acquisition of knowledge about the genetics of Angelman syndrome and technological advances such as array comparative genomic hybridization (aCGH) and assembly sequencing (NGS) have made it possible to identify alternative diagnoses in these cases.
Practicalactical Recommendations
- Detailed evaluation of the patient's family and clinical history.
- Car-term molecular tests such as aCGH or NNG identify epigenic anomalies oror genetic mutations in the gene gene Umut3.
- Consider short of other alternative diagnoses if the molecular tests are negative.
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