Andersen-tawil syndrome

Symptoms

How many people with the gene change associated with Andersen-Tawil Syndrome develop symptoms?

Up to 20% (1 in 5) people who have a change in a gene associated with Andersen-Tawil Syndrome (KCNJ2) will not have symptoms.

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If this is a predisposition gene, what are the chances I will get Andersen-Tawil Syndrome?

What are the main symptoms of Andersen-Tawil Syndrome?

Are there earlier onset, later onset, or variant forms of Andersen-Tawil Syndrome?

What health problems should I look for in Andersen-Tawil Syndrome?

Are there learning problems associated with Andersen-Tawil Syndrome?

Are there any other diseases that look a lot like Andersen-Tawil Syndrome?

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Andersen-Tawil Syndrome?

Can the frequency, length, and severity of the periods of muscle weakness vary between different people with Andersen-Tawil Syndrome?

If this is a predisposition gene, what are the chances I will get Andersen-Tawil Syndrome?

Between 80-94% of people with changes in the KCNJ2 gene will develop symptoms of Andersen-Tawil Syndrome.

What are the main symptoms of Andersen-Tawil Syndrome?

Symptoms of Andersen-Tawil Syndrome include periods of muscle weakness (periodic paralysis) and changes in heart rhythm (arrhythmia). People with this condition may also have eyes that are widely spaced, ears that are lower than normal, dental problems including crowded or missing teeth, fingers or toes that are unusually curved (clinodactyly), small lower jaw (micrognathia), shorter than average height, and an overly curved spine (scoliosis).

Are there earlier onset, later onset, or variant forms of Andersen-Tawil Syndrome?

Symptoms of Andersen-Tawil Syndrome usually begin before the person turns 20 years old and may include changes in heart rhythm (arrhythmia) or periods of weakness that occur randomly following periods of rest or following resting after exercising.

What health problems should I look for in Andersen-Tawil Syndrome?

Andersen-Tawil Syndrome causes periods of muscle weakness (periodic paralysis) and changes in the heart rhythm (arrhythmia). Seizures during infancy (children between the age of 1 month and 1 year old) have been reported in a few people with this condition.

Are there learning problems associated with Andersen-Tawil Syndrome?

Mild learning problems have been described in Andersen-Tawil Syndrome. Even though IQ scores between a affected and unaffected siblings were similar, the affected siblings tend to have problems with memory/reasoning/problem solving (executive function) and their ability to identify patterns/apply this information to solve problems (abstract reasoning).

Are there any other diseases that look a lot like Andersen-Tawil Syndrome?

Hypokalemic (low potassium levels) periodic paralysis may look very similar to Andersen-Tawil Syndrome but it lacks the physical features and the periods of muscle weakness generally do not affect the muscles of the heart. Thyrotoxic periodic paralysis is similar to hypokalemic periodic paralysis but only occurs in people with an overactive thyroid gland. There are also a group of syndromes called long QT that cause the heart to take longer to recharge between beats causing changes in heart rhythm (arrhythmia).

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Andersen-Tawil Syndrome?

Andersen-Tawil Syndrome usually has three primary features including periods of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and unusual physical features.

Can the frequency, length, and severity of the periods of muscle weakness vary between different people with Andersen-Tawil Syndrome?

The frequency, length, and severity of the periods of muscle weakness can vary between different people with Andersen-Tawil Syndrome. Periods of weakness may also vary between family members who also have the condition. Permanent weakness may also be seen.

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