What is Spinal Muscular Atrophy? It’s August and we need to know!

SMA AugustAugust is Spinal Muscular Atrophy Awareness month. This is condition is also known as SMA and there are three types: Type 1, Type 2 and Type 3 Spinal Muscular Atrophy.  This is a hereditary disease that triggers weakness and also wastes or burns the voluntary muscle groups in the upper and lower extremities of children. SMA and its different types are due to an anomalous or absent gene known to be the survival motor neuron gene 1.  The job of this particular gene is the production of an essential protein needed by motor neurons. 

When this protein goes missing the motor neurons found in the spinal cord die after a process of degeneration.  What determines the Spinal Muscular Atrophy to be type 1,2 or 3 is basically how severe the symptoms of the condition are and age of onset.

Type 1

Another name for Spinal Muscular Atrophy type 1 is Werdnig-Hoffman disease.  At birth, the infant shows evident signs of the condition. The signs can also develop in the early months after birth.  Flaccid extremities and trunk, weak movements of the extremities, difficulty feeding and swallowing and faulty breathing are some of the symptoms present in the infant that can determine this condition.

Type 2

Type 2 Spinal Muscular Atrophy, known as the intermediate form of SMA, happens between 6-18 months of age usually.  The lower extremities become more defective than upper extremities.

Type 3

Type 3 SMA is also known by the name Kugelberg-Welander disease.  This type may appear at 2 to 17 years of age.  Those who suffer from type 3 Spinal Muscular Atrophy may be able to sit.  There are cases where they are able to stand and walk with assistance.  Some symptoms may be shown when running, standing from a chair, and climbing steps as caregivers, family, or the child himself notice the difficulty in doing any of them. Lower limbs are the ones taking a bigger hit from the condition.  During type 3 SMA there are complications such as scoliosis and chronic shrinkage of tendons and muscle fibers adjacent to the joints.


Unfortunately there is no cure for Spinal Muscular Atrophy.  The best doctors can do is provide treatment to prevent complications and to manage other symptoms.


With Type 1 SMA the prognosis is extremely poor on babies.  They will pass away in the first two years of life. With type 2 SMA the life expectancy is related to from what moment they begin showing symptoms of this condition. In older children, the symptoms are usually less aggressive. Type 3 SMA patients may suffer from respiratory infections however with good medical and at home care, they are able to expand their lifespan.