Andersen syndrome
Andersen syndrome is a rare genetic disorder characterized by periodic paralysis, cardiac arrhythmias, and developmental abnormalities. It is named after Ellen Andersen, who first described the condition in 1971.
Symptoms and Signs[edit | edit source]
The symptoms of Andersen syndrome can vary greatly among affected individuals. The most common symptoms include periodic paralysis, cardiac arrhythmias, and developmental abnormalities. Periodic paralysis is characterized by episodes of muscle weakness or paralysis that can last from hours to days. Cardiac arrhythmias in Andersen syndrome often involve prolonged QT interval on an ECG, which can lead to life-threatening irregular heart rhythms. Developmental abnormalities can include distinctive facial features, short stature, and skeletal abnormalities.
Genetics[edit | edit source]
Andersen syndrome is caused by mutations in the KCNJ2 gene. This gene provides instructions for making a protein that forms a channel across cell membranes. The channel transports potassium ions into cells, which is critical for maintaining the normal function of muscle cells and heart cells. Mutations in the KCNJ2 gene disrupt the function of these channels, leading to the symptoms of Andersen syndrome.
Diagnosis[edit | edit source]
The diagnosis of Andersen syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. Genetic testing can identify mutations in the KCNJ2 gene. However, not all individuals with Andersen syndrome have identifiable mutations in this gene.
Treatment[edit | edit source]
There is currently no cure for Andersen syndrome. Treatment is symptomatic and supportive, and may include medications to manage cardiac arrhythmias and episodes of paralysis. Individuals with Andersen syndrome are also advised to avoid triggers for paralysis episodes, such as certain foods and medications.
Prognosis[edit | edit source]
The prognosis for individuals with Andersen syndrome varies. Some individuals may have mild symptoms and a normal lifespan, while others may experience severe symptoms and have a shortened lifespan due to cardiac complications.
See Also[edit | edit source]
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