#1 genetic killer of infants

Most prevalent motor neuron disease, according to Muscular Dystrophy Assn.

Over 25,000 Americans suffer from SMA

500 to 1000 children born with SMA each year in the US

7 million Americans are carriers of SMA

Currently incurable, untreatable, and deadly

Defect in the SMN1 gene results in diminished amount of Survival Motor Neuron [SMN] Protein

SMN deficiency results in deterioration /death of lower motor neuron cells, which connect the spinal cord to the muscles in the body and transmit brain impulses to the muscles

Diminished ability for the brain to control muscles results in wasting away (atrophy) of muscles

Causes incredible suffering in patients

Muscles wither away

Progressive loss of movement and muscle function

Severe bone and spinal deformities develop

Increasingly severe respiratory weakness eventually leads to death

Children’s minds are unaffected, but are trapped in dying bodies

Three primary categories of severity [severe types are more prevalent]:

SMA type I affects infants in the womb or shortly afterwards. Affected children, if they are born, never sit or stand and usually die before the age of 2

SMA type II usually emerges at 3 and 15 months of age. These children may initially sit but do not stand or walk. Progressive weakness leads to loss of movement and strength, and increasingly severe respiratory complications.  Life expectancy is variable but painful and short (up to 30 years)

SMA type III symptoms appear between 2 and 17 years of age:  Victims progressively lose strength and movement, and lose the ability to walk or stand, but life expectancy is less impacted

Care is devastatingly expensive relative to other diseases

Severe weakness results in frequent and extended hospitalization

Constant need for care from multiple specialists [neurologist; orthopedist; pulmonologist]

Constant ongoing support including respiratory aids; home nursing care; physical therapy

Repeated surgical procedures for bone and spinal deformities

Research outlook is promising due to recent advances – real hope for treatment!

Relevant gene (SNM1) was identified many years ago, unlike in many diseases

Gene product [SMN Protein] has been identified, and its workings are relatively well understood

Existence discovered of a secondary gene which produces small amounts of SMN protein – how much is produced by the ‘backup gene’ is the key driver of the severity of the disease

Existence of the secondary gene dramatically improves treatment outlook – much easier to improve functioning of an existing gene or protein than create one from scratch

Important linkage and potential research benefit to other neurological diseases such as ALS

Motor neurons are a critical part of the neurological system