Spinal Muscular Atrophy

A few of the diseases in the Autosomal Recessive spectrum have really bothered me. Mostly this is because they significantly affect children and that hurts. Even with my faith in Christ, this is hard to swallow. From the SMA website:

Spinal Muscular Atrophy kills more babies than any other genetic disease.

There is no way that a person can read that and not be affected in some way, shape, or form. Here is the key symptom that causes the bulk of the pain:

-Degeneration and death of the motor neurons (also called Anterior Horn Cells) in the brain stem and spinal cord produces weakness in the muscles of swallowing, breathing, and limbs.

It is, thankfully, important to realize that not all patients die as infants, although the disease is the biggest killer. In fact, the founders of the Fight SMA organization have a young-adult son who has the disease. It depends on what type a person has. There are three:

Type I: The most severe and most lethal form. I took the following directly from the website: "Children with Type I SMA face a difficult battle. They are constantly at risk of respiratory infection and pneumonia. Feeding difficulties make it a real challenge for parents to give their children adequate nutrition and supplemental feedings may be required. Tubes placed through the nose or directly onto the stomach may be necessary. Recurrent respiratory problems usually result in death before two years of age. However, a small number of children with Type I SMA may survive into their teens or early adulthood."

This is really sad to me. I look around at all of the CF patients I know who are living into their adult years and to hear about how this disease still kills so early saddens me.

Type II: This is an intermediate form. Whereas in Type I many infants and toddlers die, Type II can be controlled in some ways, according to the website. Pnuemonia, a constant threat in Type I, is less of a threat for Type II, as an example. Children can often learn to sit under their own power, although walking is almost impossible due to the weakened muscles.

Type III: Many Type III patients remain undiagnosed for years! Unlike Type I and Type II, most are not diagnosed until the age of 5 or 10. Not that there's any such thing as an easy ride, but Type III is the least invasive of the three types.

This video is on the website's homepage. Be careful though. Watch only if you're ready to be emotional:




On Wikipedia's article on Autosomal Recessive Diseases, SMA was split into three different entries, thus there were ten diseases, not the eight we have in our Summer Knowledge Project. I see enough commonality to include them all in the same post. In fact, the Fight SMA website promotes them as three groups of one disease. I will fix this if it offends anyone with SMA, but for now I will conclude with one post on the three types.