Monday, December 12, 2011

Genetic Disorders

My genetic disorder was SMA
SMA-stands for Spinal Muscular Atrophy
Affects:
nervous system
voluntary muscle movement- like flexing an arm or a leg
Spinal:affects nerves attached to the spine
Muscular: it doesn't allow for nerves to deliver signals to muscles to work
Atrophy:the term for wastage or shrinkage which happens to the muscles when they aren't active
Causes:
deficiency-doesn't make enough or lacks-of a motor neuron protien
motor neuron
Types:
SMN related SMA
non- SMN SMA
Spinal Bulbar Muscular Atrophy-SBMA =genetic problem on the X chromosome also called kennedy's disease
Type 1 SMA(Werdning-Hoffmann disease) children live approximently 2 years after birth
Type 2 SMA(Intermidiate SMA)
Type 3 SMA(kugelberg-welander disease or mild SMA)
Type 4 SMA(Adult Onset SMA)
Problems:
1 respiratory muscle weakness
2 swallowing muscle weakness
3 back muscle weakness with progressive curvature
4 abnormal reactions to muscle-relaxing medications(anesthesia)
Treatments
1: breathing ventilation devices
2: liquid food & swallowing tube
3: Back brace
4: Use of different drugs
Who can get it:
Any one can get SMA the first types are more common in children where as the last 2 types are common in adults

No comments:

Post a Comment