Anderson
Anderson's Syndrome
Anderson's Syndrome (pronounced: An-der-son's Syn-drome), also known as Anderson-Tawil Syndrome, is a rare genetic disorder characterized by periodic paralysis, distinctive facial features, and a prolonged QT interval in the heart's electrical cycle, which can lead to abnormal heart rhythms (arrhythmia).
Etymology
The syndrome is named after Dr. Ellen Anderson and Dr. Louis Tawil, who first described the condition in 1971.
Symptoms
The most common symptoms of Anderson's Syndrome include:
- Periodic paralysis: Episodes of muscle weakness or paralysis that come and go.
- Arrhythmia: Abnormal heart rhythms, which can be life-threatening.
- Distinctive facial features: These may include a small lower jaw (micrognathia), dental abnormalities, low-set ears, and widely spaced eyes (hypertelorism).
Causes
Anderson's Syndrome is caused by mutations in the KCNJ2 gene. This gene provides instructions for making a protein that forms a channel across cell membranes, which is critical for maintaining the normal function of muscle cells.
Diagnosis
Diagnosis of Anderson's Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
Treatment of Anderson's Syndrome is focused on managing the symptoms. This may include medications to prevent episodes of paralysis and to manage heart arrhythmias.
Prognosis
The prognosis for individuals with Anderson's Syndrome varies. Some people may have mild symptoms and a normal lifespan, while others may experience severe symptoms and have a shortened lifespan due to heart complications.
See Also
External links
- Medical encyclopedia article on Anderson
- Wikipedia's article - Anderson
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