Transcript Spinal Muscular Atrophy 2

SPINAL MUSCULAR ATROPHY
By Robert Johnson
SYMPTOMS INFANT
• Can have a breathing difficulty
• Difficulty feeding, food may go down windpipe instead
of stomach
• Floppy infant, poor muscle tone
• Lack of head control
• Little movements
SYMPTOMS CHILD
• Much less symptoms then infant
• A increase in severe respiratory infections, frequently
• Nasal speech
• Your posture begins to get worse
4 TYPES
• SMA type I- infants born with
very little muscle tone, very
weak and will have feeding
and breathing problems
• SMA type II- symptoms don’t
start to appear until 6 months
to 2 years
• SMA type III- mild disease,
starts in
childhood/adolescence
• SMA type IV- even milder,
weakness starts in adulthood
PREVALENCE
• 4 in every 100,000 people have
it, 1 in every 25,000
• 1 out of every 40 people are
genetic carriers of the disease
• When both parents have gene 1
of every 4 kids get it
• You should check with your
doctor before having kids if you
have the gene
CAUSES/TRANSMITTED
• Most of the time to be affected
the person has to get the
defective gene from both of their
parents autosomal recessive
genetic disease
• Missing or mutated gene SMN
• Produces protein
• Attacks nerve cells in spinal cord
TREATMENTS
• No treatment for weakness
caused by disease
• Support care is very
important
• Attention to respiratory
system
• Physical therapy to prevent
scoliosis
INTERESTING FACTS
• The second leading
cause of
Neuromuscular disease
• People with SMA type I
rarely live longer then
2-3 years
• SMA is the number one
genetic killer of children
under the age of two.
WORK CITIED
•
Board, A.D.A.M. Editorial. Spinal Muscular Atrophy. U.S. National Library of
Medicine, 18 Nov. 0000. Web. 17 Dec. 2012.
<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001991/>.
•
"Families of Spinal Muscular Atrophy - What Causes Spinal Muscular Atrophy?"
Families of Spinal Muscular Atrophy - What Causes Spinal Muscular Atrophy? N.p.,
n.d. Web. 17 Dec. 2012.
<http://www.fsma.org/FSMACommunity/understandingsma/WhatCausesSMA/>.
•
"Spinal Muscular Atrophy: MedlinePlus." U.S National Library of Medicine. U.S.
National Library of Medicine, n.d. Web. 17 Dec. 2012.
<http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html>.