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Diseases » Angelman syndrome » Glossary

Glossary for Angelman syndrome

Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
Brain conditions: Medical conditions that affect the brain
Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
Cor pulmonale: Enlarged heart due to respiratory difficulty.
Dizziness: Feelings of lightheadedness or giddiness.
Epilepsy: Brain condition causing seizures or spasms.
Head symptoms: Symptoms affecting the head or brain
Hypothalamic dysfunction: Abnormal function of the thalamus located in the brain. The thalamus controls pituitary gland function which in turn controls other hormone producing glands such as the thyroid gland, adrenal gland, ovaries and testes. The thalamus also regulates functions such as temperature control, emotions, sleep, appetite and salt balance. Abnormal thalamus functioning may be caused by such things as surgery, infection, genetic disorders, poor nutrition and tumors.
Imprinted chromosome conditions: Conditions caused by gene imprinting.
Jaw symptoms: Symptoms affecting the jaw
Jerky movements: A condition which is associated with unintentional jerky movements
Mania: Inappropriate euphoric mood
Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Microcephaly: Small head circumference
Sleep disturbance: Sleeping difficulty, called insomnia, can involve difficulty falling asleep when you first go to bed at night, waking up too early in the morning, and waking up often during the night.
Walking symptoms: Problems with walking.