Symptoms Of Angelman Syndrome To Watch For

Angelman syndrome is a genetic condition most often caused by the deletion of part of the fifteenth chromosome. An estimated 500,000 individuals around the world have this syndrome, and it occurs at a rate of one in every fifteen thousand. The condition affects patients of every race and gender. Patients with Angelman syndrome have a normal life expectancy, and they typically require continuous care. Symptoms tend to appear at around six months of age. Although patients with this condition are unable to live independently and may not speak, they are normally very happy individuals, laughing and smiling frequently. Blood tests can confirm a diagnosis of Angelman syndrome, and treatment focuses on improving communication and quality of life. The syndrome is often misdiagnosed as autism or cerebral palsy.

The symptoms described below are some of those that may indicate the presence of Angelman syndrome.

Ataxia

Ataxia refers to problems with walking, movement, and balance. Some patients with Angelman syndrome may not be able to walk at all, and others may have significant motor impairment. Patients who can walk may do so with their arms uplifted for better balance, and they might also flap their hands. A doctor can assess the degree of a patient's ataxia by performing a neurological exam and checking the patient's balance, gait, coordination, and reflexes. To help improve balance and motor skills, patients usually participate in intensive physical therapy. The physical therapist guides the child through exercises that strengthen muscle groups and teach movement patterns. Physical therapy can help Angelman syndrome patients with ataxia learn specific adaptations that could make walking and movement easier for them.

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