3 Main Spinal Muscular Atrophy Symptoms



2. Breathing Difficulties

Patients with SMA types 1 and 2 will experience breathing difficulties due to the weak muscles in their chest and abdomens. Most children with type 1 SMA will require breathing assistance through a ventilator and many will need a tracheostomy to help with breathing. Children with type 2 SMA may only need help during the night to regulate their breathing or if they get an infection. Those with types 3 and 4 usually don’t experience breathing difficulties, but some may suffer from sleep apnea and hypoventilation.

Children who have breathing difficulties will also have problems swallowing so will need to be fed directly into the stomach via a tube, and require a suction device to help them get rid of excess saliva.

Read how Cure SMA awarded a $50,000 grant to research into breathing and posture.

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  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
    Leg weakness
    Pes cavus foot
    Absence of reflexes

  2. Hosanna Gapas says:

    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.

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