Al-Raqad syndrome
Al-Raqad Syndrome
Al-Raqad Syndrome (pronunciation: al-RA-kad sin-drome) is a rare genetic disorder characterized by muscle weakness, developmental delay, and other neurological symptoms. The syndrome was first described by Dr. Mohammad Al-Raqad and his team in 2016.
Etymology
The syndrome is named after Dr. Mohammad Al-Raqad, a Jordanian pediatric neurologist who first described the condition. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
The primary symptoms of Al-Raqad Syndrome include:
- Muscle weakness
- Developmental delay
- Intellectual disability
- Seizures
- Ataxia (lack of muscle control or coordination)
- Dysarthria (difficulty in articulating words due to problems with the muscles that help you talk)
Causes
Al-Raqad Syndrome is caused by mutations in the MADD gene. This gene provides instructions for making a protein that is involved in cell signaling and energy production.
Diagnosis
Diagnosis of Al-Raqad Syndrome is based on clinical examination, genetic testing, and the presence of characteristic symptoms.
Treatment
There is currently no cure for Al-Raqad Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, medication for seizures, and special education services.
See Also
References
- Al-Raqad, M., et al. (2016). A novel MADD splice site mutation causing a phenotypic spectrum ranging from isolated slowly progressive dilated cardiomyopathy to classical Al-Raqad syndrome in a large family. Journal of Medical Genetics, 53(8), 526-531.
External links
- Medical encyclopedia article on Al-Raqad syndrome
- Wikipedia's article - Al-Raqad syndrome
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