angelman syndrome

Causes

• deletion of the gene UBE3A and OCA2 in chromosome 15
• mutation of the UBE3A gene
• inherits two copies of chromosome 15 from one parent

causes

• Affected people typically have no history of the disorder in their family
• rarely genetically inherited
• changes occur randomly durning formation of sex cells
• or occur during early embryonic development

SYMPTOMS

• developmental disabilities
• neurological problems
• difficulty speaking, balancing and walking

OTHER SYMPTOMS

• trembling of arms and legs
• in some cases seizures
• frequent smiling and laughing

TREATMENT

• focus on managing child's medical and developmental problems
• require life long care
• live spam is normal

interesting facts

• first described in 1965 by Dr. Harry Angelman
• affects 1 in every 15,000 live births