Andersen
Andersen Syndrome
Andersen Syndrome (pronounced: An-der-sen Syn-drome), also known as Andersen-Tawil Syndrome or Long QT Syndrome 7, is a rare genetic disorder characterized by periodic paralysis, cardiac arrhythmias, and distinctive facial and skeletal features.
Etymology
The syndrome is named after Ellen Andersen, a Danish physician who first described the condition in 1971. The term "Tawil" was later added to acknowledge the contributions of Rabi Tawil, an American neurologist who further defined the syndrome.
Definition
Andersen Syndrome is a type of channelopathy, a disorder caused by abnormalities in ion channels. Specifically, it is caused by mutations in the KCNJ2 gene, which encodes the protein Kir2.1, an inward-rectifier potassium ion channel. This leads to disruptions in the flow of potassium ions in and out of cells, affecting the function of various tissues, including muscles and the heart.
Symptoms
The symptoms of Andersen Syndrome can vary greatly among affected individuals. They typically include:
- Periodic paralysis: Episodes of muscle weakness or paralysis that come and go.
- Cardiac arrhythmias: Irregular heart rhythms, specifically a form of long QT syndrome.
- Distinctive facial and skeletal features: These can include a small lower jaw, dental abnormalities, and unusually curved fingers and toes (clinodactyly).
Related Terms
- Long QT Syndrome: A heart condition that can cause fast, chaotic heartbeats.
- Channelopathy: A term for a group of disorders caused by the dysfunction of ion channels.
- KCNJ2: The gene associated with Andersen Syndrome.
- Kir2.1: The protein encoded by the KCNJ2 gene.
Treatment
Treatment for Andersen Syndrome is typically symptomatic and supportive. This may include medications to manage cardiac arrhythmias and physical therapy for muscle weakness. Genetic counseling may also be beneficial for affected individuals and their families.
External links
- Medical encyclopedia article on Andersen
- Wikipedia's article - Andersen
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski