Angle man syndrome
By Victor Vazquez
(As) Angle Man syndrome affects the 15th chromosome. It is a neuro genetic disorder it’s characterize as an intellect and a development delay. The effects are
• Sleep disturbance
• Jerky moment (usually hand flapping)
• Smiling and laughing a lot often
• And happy demeanor
( extra information The disorder also has a sister called padre willi syndrome it’s an inherited disease.) The syndrome is called after Dr.Harry Angle man. there is also an older term to call angle man syndrome happy puppet man syndrome.
Angel man syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include. Unparental dismay translocation or single gene mutation in that region. A healthy person receives two copies of chromosome 15, one from the mother and the other from the father. However, in the region of the chromosome that is critical for Angel man syndrome, the maternal and paternal contribution express certain genes very differently.
There are also some features of Angle man syndrome. This consists of 100%
Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher then some other people.
Moment or balance disorder usually ataxia of gait
Frequent 80% or more
Delayed, disproportionate growth in head circumference
Abnormal EEG characteristic pattern with large amplitude slow-spike waves
Seizure start at 3 years of age
Assistive 20 percent to 80% or more
Hypo pigmented skin and eyes
Hypersensitive tendon reflex
Wide mouth spacing
Uplifted flexed arm’s
Highly sensitive to heat
Attraction to fascination with water
Flat back head
Characteristic facile appearance
Deletions of the 15th chromosome. There is also no treatment to this disorder it can be controlled with one of more types of medication.
Living with angle man syndrome
Even with angle man syndrome and its live changing effects its not life destroying
These effects are just generally happy and contented people, there like people who want to talk and play. The communication can be difficult at first but a child with AS develops It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most afflicted people will not develop more than 5-10 words at all. Seizures are a consequence, but so is excessive laughter, which is a major hindrance to early diagnosis.