Stiff or Inflexible Movements in Angelman Syndrome
One of the most noticeable symptoms of Angelman Syndrome is the presence of stiff or jerky movements, which can be observed from infancy. In severe cases, individuals with Angelman Syndrome may experience delayed walking, with some not being able to walk independently until they reach the age of five or even ten years old. Even after achieving the ability to walk, their movements remain slow and rigid.
These jerky motions are easily observable, and many children with Angelman Syndrome are unable to walk unaided at all. It is common to see them running with their wrists flexed or their arms bent in the air. Additionally, repetitive clapping of the hands is a common behavior exhibited by individuals with this disorder. These movements are characterized by their stiffness and lack of fluidity.
As individuals with Angelman Syndrome grow older, their joints tend to become even stiffer, similar to the natural aging process in healthier individuals. This progressive stiffening of the joints further limits their ability to move and maneuver their bodies.
Facial and Body Features in Angelman Syndrome
Individuals with Angelman Syndrome often exhibit various facial and body features that are characteristic of the condition. These features include both muscle tone abnormalities and distinct physical characteristics.
One common characteristic is the presence of hypotonia and hypertonia. This refers to diminished muscle tone in the trunk area, while the arms and legs experience increased muscle tone. Additionally, individuals with Angelman Syndrome may also experience hyperreflexia, which is an exaggerated reflex response.
Another notable feature is the presence of macrosomia, which is characterized by a widened mouth with widely-spaced teeth and a protruding tongue. This facial characteristic is less common but can be observed in some individuals with Angelman Syndrome.
In some cases, individuals with Angelman Syndrome may exhibit mandibular prognathism, which is a pronounced lower jaw. Additionally, they may also have an abnormal protrusion of the cornea, known as keratoconus, which can result in deep-set eyes. Crossed eyes have also been reported in individuals with this disorder.
As individuals with Angelman Syndrome grow into adolescence, scoliosis, or the curvature of the spine, may become apparent. It is important to consult with a family doctor to effectively manage the challenges associated with Angelman Syndrome and ensure appropriate care for individuals with this condition.