SMA by ljrybczyk on emaze

Spinal Muscular Atrophy (SMA)

By L.J. Rybczyk

What is SMA?

SMA is a group of inherited disorders that cause progressive muscle degeneration

(Basically a group of disorders that you inherit from your parents that will slowly deteriorate your muscles)

What is it caused by?

SMA is caused by a mutation in the SMN1 gene on chromosome 5

Symptoms

First off, there are 4 types of SMA: Types 0, 1, 2, and 3
Type 0: Most severe type. Reduced movement of the fetus first seen between 30-36 weeks of pregnancy. When born the child has difficulty breathing and swallowing
Type 1: The second most severe type, symptoms come at birth or a few months into life, the symptoms being difficulty breathing and swallowing, and cannot sit without support
Type 2: Develop muscle weakness between 6 months and 1 year of age. Cannot stand or walk without help
Type 3: Much less severe than the other types. Symptoms appear between early childhood to early adulthood. Cannot stand or walk without help. Later in life cannot stand whatsoever later in life

A girl with type 1 SMA on her 3 1/2 birthday, when the common life expectancy for type 1 SMA is only 2 years

How it is inherited

Someone can only be affected by SMA if both parents have the mutated gene

Number of people affected

There are 1 in 6,000 to 1 in 10,000 people affected by SMA

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