3 Main Spinal Muscular Atrophy Symptoms

Spinal muscular atrophy (SMA) is a genetic condition which affects a child’s range of movement due to the ongoing degeneration of muscle tone.

There are three main symptoms of the disease, the severity of which will depend upon the type of SMA the patient has: Type 1 presenting the most severe symptoms and Type 4 the least severe.

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1. Poor Muscle Tone

Usually noticed in infancy when the child fails to make the usual development milestones, such as rolling over, sitting up, crawling and walking. The muscle tone will continue to waste away over time, with the muscles closest to the center of the body, such as the shoulders, chest and back, being affected more than those in the extremities.

In severe cases, as the muscle deteriorates the child will begin to lose the ability to walk, sit unaided, and eventually move. In types 3 and 4, problems may appear with running and walking, balance, tremors, and twitching in adulthood.

Revised upper limb module should be a better tool to assess muscle weakness. Read more here. 

One comment

  1. Can you also elaborate more on a very rare form of SMA called Scapuloperoneal Spinal Muscular Atrophy or SPSMA? My daughter and I both have this neuromuscular disorder and were genetically tested and shown to carry the TRPV4 gene mutation. This type of SMA is rarely spoken about and has specific symptoms such as;
    Vocal cord paralysis
    Absence of muscle
    Muscle wasting of hands and feet
    Scapular winging
    Scoliosis
    Leg weakness
    Pes cavus foot
    Absence of reflexes

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