Al-Raqad syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Al-Raqad syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Developmental delay]], [[Intellectual disability]], [[Seizures]], [[Hypotonia]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Other genetic syndromes]] | |||
| treatment = [[Supportive care]], [[Symptomatic treatment]] | |||
| medication = [[Anticonvulsants]] | |||
| frequency = [[Rare disease]] | |||
| deaths = | |||
}} | |||
'''Al-Raqad Syndrome''' is a rare genetic disorder characterized by muscle weakness, developmental delay, intellectual disability, and distinctive facial features. It was first described by Al-Raqad et al. in 2016. | '''Al-Raqad Syndrome''' is a rare genetic disorder characterized by muscle weakness, developmental delay, intellectual disability, and distinctive facial features. It was first described by Al-Raqad et al. in 2016. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Al-Raqad Syndrome include: | The symptoms of Al-Raqad Syndrome include: | ||
* [[Muscle weakness]] | * [[Muscle weakness]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* Distinctive facial features | * Distinctive facial features | ||
== Causes == | == Causes == | ||
Al-Raqad Syndrome is caused by mutations in the [[ST3GAL3]] gene. This gene provides instructions for making an enzyme that is involved in the formation of certain types of [[glycoproteins]], which are proteins with attached sugar molecules. | Al-Raqad Syndrome is caused by mutations in the [[ST3GAL3]] gene. This gene provides instructions for making an enzyme that is involved in the formation of certain types of [[glycoproteins]], which are proteins with attached sugar molecules. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Al-Raqad Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. | The diagnosis of Al-Raqad Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Al-Raqad Syndrome. Treatment is supportive and based on the symptoms present in each individual. | There is currently no cure for Al-Raqad Syndrome. Treatment is supportive and based on the symptoms present in each individual. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[ST3GAL3]] | * [[ST3GAL3]] | ||
* [[Glycoproteins]] | * [[Glycoproteins]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 22:16, 3 April 2025
| Al-Raqad syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Neurology, Genetics |
| Symptoms | Developmental delay, Intellectual disability, Seizures, Hypotonia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Other genetic syndromes |
| Prevention | N/A |
| Treatment | Supportive care, Symptomatic treatment |
| Medication | Anticonvulsants |
| Prognosis | N/A |
| Frequency | Rare disease |
| Deaths | |
Al-Raqad Syndrome is a rare genetic disorder characterized by muscle weakness, developmental delay, intellectual disability, and distinctive facial features. It was first described by Al-Raqad et al. in 2016.
Symptoms and Signs[edit]
The symptoms of Al-Raqad Syndrome include:
- Muscle weakness
- Developmental delay
- Intellectual disability
- Distinctive facial features
Causes[edit]
Al-Raqad Syndrome is caused by mutations in the ST3GAL3 gene. This gene provides instructions for making an enzyme that is involved in the formation of certain types of glycoproteins, which are proteins with attached sugar molecules.
Diagnosis[edit]
The diagnosis of Al-Raqad Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing.
Treatment[edit]
There is currently no cure for Al-Raqad Syndrome. Treatment is supportive and based on the symptoms present in each individual.
See Also[edit]
References[edit]
<references />
