What are the main symptoms of Andermann Syndrome?
The main symptoms of Andermann Syndrome include low muscle tone (hypotonia) presenting in the first year of life, lack of reflexes from infancy, muscle weakness and wasting, tremors, delayed walking until about age 3, loss of the ability to walk by the early teens, drooping eyelids (ptosis), weakness of the muscles in the face, gaze palsy and horizontal involuntary eye movements (nystagmus) abnormal curves in the spine (scoliosis) by the age of 10 years, intellectual disabilities, missing or underdeveloped tissue connecting the left and right sides of the brain (corpus callosum), and seizures (epilepsy).
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Are there earlier onset, later onset, or variant forms of Andermann Syndrome?
The symptoms of Andermann Syndrome usually begin in infancy and worsen as the person gets older. Most people with Andermann Syndrome have to use orthotics to help with mobility in their teens, a wheelchair by the time they turn 20 years old and life expectancy is in the late thirties. There are no known variations of this pattern of earlier or later onset for this disease.
What health problems should I look for in Andermann Syndrome?
The primary features of Andermann syndrome start in infancy. A diagnosis may be suspected because of absent reflexes, poor muscle tone, or limb tremors. Once confirmed, several assessments are made. A developmental assessment to look for any intellectual disabilities or developmental delay, physical therapy review to determine what type of weakness is present, and ongoing visits with a multi-disciplinary team to monitor the progression of weakness, the appearance of joint contractures and scoliosis, and for psychiatric manifestations.
Are there any other diseases that look a lot like this one?
Many of the symptoms that occur in Andermann Syndrome can occur by themselves. Other hereditary motor and sensory neuropathies may look similar to Andermann Syndrome. These include Charcot-Marie Tooth Type IV, Infantile neuroaxonal dystrophy, Arylsulfatase A deficiency, Giant axonal neuropathy, and Spastic paraplegia Type 11.
Are there one or two “’odd” or “unusual” symptoms or clinical features of Andermann Syndrome?
One or two “odd” or “unusual” symptoms or clinical features of Andermann Syndrome include the missing or underdeveloped tissue connecting the left and right sides of the brain (corpus callosum) and damage to the nerves that are responsible for movement and sensation resulting in the loss of the ability to walk and normal reflexes.
Is there variable expression or incomplete penetrance in this disease?
The severity of Andermann Syndrome may vary from person to person depending on how much of the tissue that connects the left and right sides of the brain is missing or underdeveloped.
If this is a predisposition gene, what are the chances I will get Andermann Syndrome?
Having a mutation in SLC12A6 gene that causes lack of functional protein guarantees that an individual will have the signs and symptoms of Andermann Syndrome. Several changes in the gene have been discovered and cause a shorter than normal protein. All of these changes have caused Andermann Syndrome and were inherited in an autosomal recessive pattern, meaning that both copies of the gene carried the change.