Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.

Infantile SMA is the most severe form. Some of the symptoms include:
1) muscle weakness
2) poor muscle tone
3) weak cry
4) limpness or a tendency to flop
5) difficulty sucking or swallowing
6) accumulation of secretions in the lungs or throat
7) bell shaped torso, caused by breathing using muscles around the tummy area
8) clenched fists with sweaty hands
9) flickering/vibrating of the tongue
10) head often tilted to one side, even when laying down
11) legs that tend to be weaker than the arms
12) legs lying in the "frogs leg" position
13) hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells
14) feeding difficulties
15) increased susceptibility to respiratory tract infections
16) developmental milestones, such as lifting the head or sitting up, can't be reached
16) also has a very weak cough.

In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known.

SMA affects a child's muscular development, and the severity depends on what 'type' of SMA the child has. There are four "Types" of SMA, Type 1,2,3 & 4. The earlier the symptoms are noticed, the more severe the type of SMA. Type 1 is the most severe, affecting children while still in the womb or shortly after birth. Type 4 is the least severe, affecting adults.

Key Factors of SMA?
• SMA is the #1 genetic killer of young children.
• Fewer than 1 in 35 people unknowingly carrying the gene responsible for SMA.
• 1 in every 6,000 babies is born with SMA; SMA prevalence is comparable to ALS and Cystic Fibrosis.
• SMA impacts the ability to walk, sit, stand, eat, breathe, and swallow. SMA does not impact the mind and children with SMA are bright and social.
• There is currently no treatment and no cure for SMA, but there is HOPE!
• The NIH has selected SMA as the disease closest to treatment of more than 600 disorders.
• Leading U.S. researchers, including Nobel laureate James Watson, have stated that a viable treatment for SMA is possible within 5-years IF they are provided the proper resources.

About SMA Research
Although SMA is a relatively unknown common rare disease, scientific research and understanding of the disease is extremely mature and active. Dramatic breakthroughs have been made in the past fifteen years and, as a result of those breakthroughs, SMA has quickly gone from a poorly understood disease to being on the doorstep of a viable treatment.