SMA

[Sharon Manuel]

I haven’t worked with anyone with SMA in over 8 years, and it seems as though medical treatment is significantly advancing for SMA1. I am a little confused by how a little one with this diagnosis (significant head lag, limited anti-gravity strength, mm weakness of 0-3) would progress to standing and ambulation with this more current treatment. Is it that some children may not get that treatment/be eligible for it, or it may not be effective for all children to whom it is provided? For the sake of the exams, should we answer questions related to SMA1 with respect to typical progression?

[Helen Carey]

Yes, I would plan to answer questions related to SMA1 based on typical progression. Current gene therapies change the genetics and allow the infants to produce the appropriate components.

What is SMA?

[Helen Carey]

(From the link above): Spinal muscular atrophy (SMA) is a rare genetic disease caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. The SMN1 gene produces survival motor neuron (SMN) protein that is critical for normal function of motor neurons.

Patients with SMA have an insufficient amount of SMN protein, which leads to permanent loss of motor neurons. Untreated, SMA Type 1 is the number one genetic cause of infant death.

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