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.
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.
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
Having this kind of decease is really hard,you miss a lot things like simple walking, or even the activities in school. I see it on my little boy everytime that there’s a program in the school he can’t join.but you can see to him how much he wanted to join.